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.Y735insFs

c.2204_2205insT

Surrounding Variants

2 papers

NM_006005.3

p.Y735*

c.2205C>A

2 papers

NM_006005.3

p.Y735*

c.2205C>G

31 papers

NM_006005.3

p.G736S

c.2206G>A

12 papers

NM_006005.3

p.G736R

c.2206G>C

1 paper

NM_006005.3

p.G736fs

c.2206_2207fs

11 papers

NM_006005.3

p.G736D

c.2207G>A

3 papers

NM_006005.3

p.G736A

c.2207G>C

2 papers

NM_006005.3

p.G736G

c.2208C>T

1 paper

NM_006005.3

p.L734F

c.2200C>T

30 papers

NM_006005.3

p.E737K

c.2209G>A

1 paper

NM_006005.3

p.C733G

c.2197T>G

1 paper

NM_006005.3

p.C733fs

c.2197_2198fs