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

17 papers

NM_006005.3

p.G437R

c.1309G>C

Surrounding Variants

5 papers

NM_006005.3

p.G437S

c.1309G>A

1 paper

NM_006005.3

p.G437fs

c.1309_1310fs

2 papers

NM_006005.3

p.G437fs

c.1309_1310fs

3 papers

NM_006005.3

p.T436T

c.1308C>T

1 paper

NM_006005.3

p.F438_F439delFs

c.1314_1317del4

1 paper

NM_006005.3

p.T436A

c.1306A>G

1 paper

NM_006005.3

p.T436delFs

c.1308delC

1 paper

NM_006005.3

p.F438fs

c.1312_1313fs

1 paper

NM_006005.3

p.F439L

c.1315T>C

1 paper

NM_006005.3

p.F439V

c.1315T>G

2 papers

NM_006005.3

p.V434V

c.1302C>T

12 papers

NM_006005.3

p.F439C

c.1316T>G