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

24 papers

NM_006005.3

p.Q667*

c.1999C>T

Surrounding Variants

9 papers

NM_006005.3

p.W666*

c.1998G>A

11 papers

NM_006005.3

p.W666*

c.1997G>A

18 papers

NM_006005.3

p.Q668*

c.2002C>T

1 paper

NM_006005.3

p.T665N

c.1994C>A

1 paper

NM_006005.3

p.T665I

c.1994C>T

3 papers

NM_006005.3

p.T665P

c.1993A>C

17 papers

NM_006005.3

p.Y669H

c.2005T>C

3 papers

NM_006005.3

p.Y669S

c.2006A>C

18 papers

NM_006005.3

p.Y669C

c.2006A>G

6 papers

NM_006005.3

p.Y669*

c.2007T>A

5 papers

NM_006005.3

p.L664P

c.1991T>C

7 papers

NM_006005.3

p.Y669*

c.2007T>G