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

4 papers

NM_006005.3

p.A422V

c.1265C>T

Surrounding Variants

2 papers

NM_006005.3

p.A422T

c.1264G>A

1 paper

NM_006005.3

p.A422S

c.1264G>T

2 papers

NM_006005.3

p.I421M

c.1263C>G

1 paper

NM_006005.3

p.I421T

c.1262T>C

1 paper

NM_006005.3

p.I421fs

c.1261_1262fs

1 paper

NM_006005.3

p.K424E

c.1270A>G

1 paper

NM_006005.3

p.C426_C429del0

c.1278_1286del9

1 paper

NM_006005.3

p.P420insFs

c.1260dupC

1 paper

NM_006005.3

p.F419fs

c.1255_1256fs

1 paper

NM_006005.3

p.F419fs

c.1255_1256fs

1 paper

NM_006005.3

p.F419ins1

c.1255_1256insCTT

1 paper

NM_006005.3

p.F419delFs

c.1255delT