Varaico: Literature-Extracted Genetic Variants

WFS1

944 papers

RefSeq Summary

This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell li...

Pfam Domains

WSLRaa 99–133UCSCWolframin Sel1-like repeat

WSLRaa 137–175UCSCWolframin Sel1-like repeat

WEF-handaa 176–255UCSCWolframin EF-hand domain

WC-richaa 666–769UCSCWolframin cysteine-rich domain

WCOBaa 770–890UCSCWolframin C-terminal OB-fold domain

Gene Aliases

HGNC Name

wolframin ER transmembrane glycoprotein

HGNC Previous Symbols

DFNA6; DFNA14; DFNA38

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_006005.3

p.K800E

c.2398A>G

Surrounding Variants

1 paper

NM_006005.3

p.D801_V803del3

c.2401_2408del9

2 papers

NM_006005.3

p.T799T

c.2397C>G

1 paper

NM_006005.3

p.D801H

c.2401G>C

1 paper

NM_006005.3

p.V798G

c.2393T>G

2 papers

NM_006005.3

p.V798ins1

c.2393_2394insACG

2 papers

NM_006005.3

p.V798ins1

c.2393_2394insGAC

1 paper

NM_006005.3

p.I802V

c.2404A>G

2 papers

NM_006005.3

p.V798I

c.2392G>A

1 paper

NM_006005.3

p.V798ins1

c.2392_2393insGAC

1 paper

NM_006005.3

p.D797_V798ins1

c.2391_2392insACG

1 paper

NM_006005.3

p.V798insFs

c.2392dupG

2 papers

NM_006005.3

p.D797D

c.2391C>T