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

1 paper

NM_006005.3

p.F397L

c.1189T>C

Surrounding Variants

2 papers

NM_006005.3

p.F397F

c.1191C>T

1 paper

NM_006005.3

p.G398S

c.1192G>A

18 papers

NM_006005.3

p.V395V

c.1185C>T

1 paper

NM_006005.3

p.F408insFs

c.1223_1224ins28

1 paper

NM_006005.3

p.V395fs

c.1183_1184fs

10 papers

NM_006005.3

p.E394V

c.1181A>T

1 paper

NM_006005.3

p.W399C

c.1197G>C

1 paper

NM_006005.3

p.W399C

c.1197G>T

5 papers

NM_006005.3

p.E394K

c.1180G>A

2 papers

NM_006005.3

p.A393A

c.1179C>T

7 papers

NM_006005.3

p.Q392*

c.1174C>T

1 paper

NM_006005.3

p.E391E

c.1173G>A