AHNAK2 Chromosome 14
AHNAK nucleoprotein 2
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What This Gene Does
This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with calcium channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
Gene Info
Gene Group
PDZ domain containing
Locus Type
gene with protein product
Location
14q32.33
Ensembl
ENSG00000185567
Associated Conditions (2)
Dysmetria
Cervical cancer
Key Variants
RS1324964243
Conflicting classifications of pathogenicity
Health Risk
RS138867857
Conflicting classifications of pathogenicity
Health Risk
RS140208061
Conflicting classifications of pathogenicity
Health Risk
RS140752229
Conflicting classifications of pathogenicity
Dysmetria, Dysmetria
Health Risk
RS185623099
Conflicting classifications of pathogenicity
Health Risk
RS187345878
Conflicting classifications of pathogenicity
Health Risk
RS199546516
Conflicting classifications of pathogenicity
Health Risk
RS199979952
Conflicting classifications of pathogenicity
Health Risk
RS200117223
Conflicting classifications of pathogenicity
Health Risk
RS200145279
Conflicting classifications of pathogenicity
Health Risk
RS200342474
Conflicting classifications of pathogenicity
Health Risk
RS200524362
Conflicting classifications of pathogenicity
Health Risk
All Variants (53)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1324964243 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138867857 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140208061 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140752229 | Health Risk | Conflicting classifications of pathogenicity | Dysmetria, Dysmetria |
| RS185623099 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS187345878 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199546516 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199979952 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200117223 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200145279 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200342474 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200524362 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200742411 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200786364 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201165355 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201235573 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201246713 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201266243 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201374182 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201567366 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201648026 | Health Risk | Conflicting classifications of pathogenicity | Cervical cancer, Cervical cancer |
| RS201803217 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201867624 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201899110 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201902848 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201915874 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202055538 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202120144 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS202121993 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368222375 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369615995 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371225690 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371283140 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374228427 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374910618 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS374994507 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375049450 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376259620 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS558985278 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS563896817 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS565631391 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS569896060 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS570119913 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS745545200 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748013805 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751143580 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759856167 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760072343 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762868199 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763971371 | Health Risk | Conflicting classifications of pathogenicity | — |