MRAS Chromosome 3
Muscle RAS oncogene homolog
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What This Gene Does
This gene encodes a member of the Ras family of small GTPases. These membrane-associated proteins function as signal transducers in multiple processes including cell growth and differentiation, and dysregulation of Ras signaling has been associated with many types of cancer. The encoded protein may play a role in the tumor necrosis factor-alpha and MAP kinase signaling pathways. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Gene Info
Gene Group
RAS type GTPase family
Locus Type
gene with protein product
Location
3q22.3
Ensembl
ENSG00000158186
Associated Conditions (5)
Inborn genetic diseases
MRAS-related disorder
RASopathy
Noonan syndrome 11
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Key Variants
RS373753637
Conflicting classifications of pathogenicity
Inborn genetic diseases, MRAS-related disorder, Inborn genetic diseases
Health Risk
RS536326964
Conflicting classifications of pathogenicity
Health Risk
RS547745521
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS752298978
Conflicting classifications of pathogenicity
MRAS-related disorder, MRAS-related disorder
Health Risk
RS1560171992
Likely pathogenic
RASopathy, RASopathy
Health Risk
RS1576359216
Likely pathogenic
Noonan syndrome 11, RASopathy, Noonan syndrome 11
Health Risk
RS1576387876
Likely pathogenic
Noonan syndrome 11, RASopathy, Noonan syndrome 11
Health Risk
RS1576387885
Likely pathogenic
Noonan syndrome 11, RASopathy, Noonan syndrome 11
Health Risk
RS2055287972
Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS373753637 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, MRAS-related disorder, Inborn genetic diseases |
| RS536326964 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS547745521 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752298978 | Health Risk | Conflicting classifications of pathogenicity | MRAS-related disorder, MRAS-related disorder |
| RS1560171992 | Health Risk | Likely pathogenic | RASopathy, RASopathy |
| RS1576359216 | Health Risk | Likely pathogenic | Noonan syndrome 11, RASopathy, Noonan syndrome 11 |
| RS1576387876 | Health Risk | Likely pathogenic | Noonan syndrome 11, RASopathy, Noonan syndrome 11 |
| RS1576387885 | Health Risk | Likely pathogenic | Noonan syndrome 11, RASopathy, Noonan syndrome 11 |
| RS2055287972 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |