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

5 papers

NM_006005.3

p.L432R

c.1295T>G

Surrounding Variants

3 papers

NM_006005.3

p.L432Q

c.1295T>A

27 papers

NM_006005.3

p.L432V

c.1294C>G

2 papers

NM_006005.3

p.A433T

c.1297G>A

1 paper

NM_006005.3

p.E431K

c.1291G>A

1 paper

NM_006005.3

p.E431Q

c.1291G>C

7 papers

NM_006005.3

p.V434del1

c.1300_1302delGTC

2 papers

NM_006005.3

p.S430S

c.1290G>A

2 papers

NM_006005.3

p.S430*

c.1289C>A

5 papers

NM_006005.3

p.S430W

c.1289C>G

6 papers

NM_006005.3

p.S430L

c.1289C>T

2 papers

NM_006005.3

p.V434V

c.1302C>T

3 papers

NM_006005.3

p.C429C

c.1287C>T