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.A738V

c.2213C>T

Surrounding Variants

5 papers

NM_006005.3

p.A738D

c.2213C>A

2 papers

NM_006005.3

p.Y739_P740del2

c.2215_2219del6

1 paper

NM_006005.3

p.Y739D

c.2215T>G

1 paper

NM_006005.3

p.P740_A741del2

c.2218_2222del6

2 papers

NM_006005.3

p.Y739*

c.2217C>A

2 papers

NM_006005.3

p.Y739*

c.2217C>G

30 papers

NM_006005.3

p.E737K

c.2209G>A

2 papers

NM_006005.3

p.G736G

c.2208C>T

11 papers

NM_006005.3

p.G736D

c.2207G>A

3 papers

NM_006005.3

p.G736A

c.2207G>C

31 papers

NM_006005.3

p.G736S

c.2206G>A

12 papers

NM_006005.3

p.G736R

c.2206G>C