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.G670S

c.2008G>A

Surrounding Variants

2 papers

NM_006005.3

p.G670insFs

c.2010dupT

6 papers

NM_006005.3

p.Y669*

c.2007T>A

7 papers

NM_006005.3

p.Y669*

c.2007T>G

3 papers

NM_006005.3

p.Y669S

c.2006A>C

18 papers

NM_006005.3

p.Y669C

c.2006A>G

1 paper

NM_006005.3

p.A671T

c.2011G>A

1 paper

NM_006005.3

p.A671fs

c.2011_2012fs

2 papers

NM_006005.3

p.A671fs

c.2011_2012fs

17 papers

NM_006005.3

p.Y669H

c.2005T>C

7 papers

NM_006005.3

p.A671V

c.2012C>T

3 papers

NM_006005.3

p.A671A

c.2013G>A

18 papers

NM_006005.3

p.Q668*

c.2002C>T