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

2 papers

NM_006005.3

p.W730*

c.2190G>A

Surrounding Variants

1 paper

NM_006005.3

p.M731V

c.2191A>G

1 paper

NM_006005.3

p.W730*

c.2189G>A

1 paper

NM_006005.3

p.R732S

c.2194C>A

1 paper

NM_006005.3

p.R732_C733insC

c.2194_2198ins3

9 papers

NM_006005.3

p.R732C

c.2194C>T

12 papers

NM_006005.3

p.D729N

c.2185G>A

8 papers

NM_006005.3

p.R732H

c.2195G>A

1 paper

NM_006005.3

p.R732L

c.2195G>T

3 papers

NM_006005.3

p.G728G

c.2184C>T

1 paper

NM_006005.3

p.G728delFs

c.2184delC

1 paper

NM_006005.3

p.C733G

c.2197T>G

1 paper

NM_006005.3

p.C733fs

c.2197_2198fs