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.F408fs

c.1222_1223fs

Surrounding Variants

1 paper

NM_006005.3

p.H407Q

c.1221T>A

1 paper

NM_006005.3

p.H407Q

c.1221T>G

1 paper

NM_006005.3

p.F408ins1

c.1223_1224insGGA

1 paper

NM_006005.3

p.H407R

c.1220A>G

2 papers

NM_006005.3

p.H407_F408ins16

c.1219_1223ins48

1 paper

NM_006005.3

p.H407Y

c.1219C>T

1 paper

NM_006005.3

p.A406V

c.1217C>T

2 papers

NM_006005.3

p.L410delFs

c.1228delC

8 papers

NM_006005.3

p.S411delFs

c.1232_1233delCT

2 papers

NM_006005.3

p.L410del1

c.1228_1229delCTC

29 papers

NM_006005.3

p.L410_S411delFs

c.1230_1233del4

3 papers

NM_006005.3

p.L410fs

c.1228_1229fs