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.N714insFs

c.2140dupA

Surrounding Variants

3 papers

NM_006005.3

p.D713G

c.2138A>G

1 paper

NM_006005.3

p.N714D

c.2140A>G

2 papers

NM_006005.3

p.N714T

c.2141A>C

1 paper

NM_006005.3

p.N714S

c.2141A>G

3 papers

NM_006005.3

p.N714I

c.2141A>T

1 paper

NM_006005.3

p.N714_M722del0

c.2142_2165del24

2 papers

NM_006005.3

p.D713N

c.2137G>A

2 papers

NM_006005.3

p.N714_M722ins3

c.2141_2164dup24

2 papers

NM_006005.3

p.I712I

c.2136C>A

1 paper

NM_006005.3

p.S715G

c.2143A>G

3 papers

NM_006005.3

p.D713del1

c.2137_2138delGAC

1 paper

NM_006005.3

p.S715I

c.2144G>T