SEC23B Chromosome 20

SEC23 homolog B, COPII component
108 variants 108 Health Risk

Upload your DNA to see your personal genotypes for variants in SEC23B.

What This Gene Does
The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]
Gene Info
Gene Group
Coat protein complex II
Locus Type
gene with protein product
Location
20p11.23
Ensembl
ENSG00000101310
Associated Conditions (13)
Congenital dyserythropoietic anemia
type II
Cowden syndrome 7
SEC23B-related disorder
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Melanoma
Cervical cancer
Sarcoma
See cases
Thyroid cancer
nonmedullary
1
Key Variants
RS111758941
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
Health Risk
RS111951711
Conflicting classifications of pathogenicity
Cowden syndrome 7, Congenital dyserythropoietic anemia, type II
Health Risk
RS121918223
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
Health Risk
RS138314893
Conflicting classifications of pathogenicity
Cowden syndrome 7, Congenital dyserythropoietic anemia, type II
Health Risk
RS139882548
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
Health Risk
RS140466726
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
Health Risk
RS142461689
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
Health Risk
RS143417821
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
Health Risk
RS143456757
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
Health Risk
RS1443733304
Conflicting classifications of pathogenicity
Health Risk
RS146587686
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
Health Risk
RS146917730
Conflicting classifications of pathogenicity
Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
Health Risk
All Variants (108)
RSID Category Clinical Significance Conditions
RS111758941 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS111951711 Health Risk Conflicting classifications of pathogenicity Cowden syndrome 7, Congenital dyserythropoietic anemia, type II
RS121918223 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS138314893 Health Risk Conflicting classifications of pathogenicity Cowden syndrome 7, Congenital dyserythropoietic anemia, type II
RS139882548 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS140466726 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS142461689 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS143417821 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS143456757 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS1443733304 Health Risk Conflicting classifications of pathogenicity —
RS146587686 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS146917730 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS147410912 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS150733820 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS1600244935 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS183784857 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS187699090 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS200152499 Health Risk Conflicting classifications of pathogenicity Cowden syndrome 7, Congenital dyserythropoietic anemia, type II
RS201160833 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS201656419 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS201943863 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS202187007 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS2060144762 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS2060303450 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS371786580 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS372784283 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS398124227 Health Risk Conflicting classifications of pathogenicity —
RS530834583 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS534770840 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS6045440 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS752037101 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS752664090 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS761034212 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS765842157 Health Risk Conflicting classifications of pathogenicity Cowden syndrome 7, Congenital dyserythropoietic anemia, type II
RS767683935 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS770601333 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS780978419 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS886056525 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS900752773 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS905074313 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS113410788 Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS1380097145 Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS1455991766 Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS1555789463 Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS1600288964 Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II, Congenital dyserythropoietic anemia
RS2517450962 Health Risk Likely pathogenic —
RS2517451331 Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS2517457847 Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
RS2517482439 Health Risk Likely pathogenic —
RS2517482635 Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II, Cowden syndrome 7
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