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.R708L

c.2123G>T

Surrounding Variants

1 paper

NM_006005.3

p.R708H

c.2123G>A

14 papers

NM_006005.3

p.R708C

c.2122C>T

4 papers

NM_006005.3

p.R708R

c.2124C>T

3 papers

NM_006005.3

p.V709M

c.2125G>A

1 paper

NM_006005.3

p.V709A

c.2126T>C

1 paper

NM_006005.3

p.V709G

c.2126T>G

5 papers

NM_006005.3

p.V707I

c.2119G>A

4 papers

NM_006005.3

p.V707F

c.2119G>T

1 paper

NM_006005.3

p.V707fs

c.2119_2120fs

1 paper

NM_006005.3

p.T710S

c.2128A>T

1 paper

NM_006005.3

p.Y706*

c.2118C>A

1 paper

NM_006005.3

p.Y706*

c.2118C>G