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.A878A

c.2634C>T

Surrounding Variants

1 paper

NM_006005.3

p.D880_F881del0

c.2638_2643del6

2 papers

NM_006005.3

p.A878T

c.2632G>A

2 papers

NM_006005.3

p.F877F

c.2631C>T

2 papers

NM_006005.3

p.F881del1

c.2641_2642delTTC

1 paper

NM_006005.3

p.F881delFs

c.2642delT

10 papers

NM_006005.3

p.F881_F882delFs

c.2643_2646del4

4 papers

NM_006005.3

p.K876T

c.2627A>C

3 papers

NM_006005.3

p.F881fs

c.2641_2642fs

1 paper

NM_006005.3

p.F881fs

c.2641_2642fs

8 papers

NM_006005.3

p.F881_F882delFs

c.2643_2644delCT

1 paper

NM_006005.3

p.F881C

c.2642T>G

1 paper

NM_006005.3

p.F882del1

c.2644_2645delTTT