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

4 papers

NM_006005.3

p.E655G

c.1964A>G

Surrounding Variants

5 papers

NM_006005.3

p.E655K

c.1963G>A

2 papers

NM_006005.3

p.G656S

c.1966G>A

2 papers

NM_006005.3

p.S654*

c.1961C>A

2 papers

NM_006005.3

p.S654*

c.1961C>G

1 paper

NM_006005.3

p.M657L

c.1969A>C

3 papers

NM_006005.3

p.M657V

c.1969A>G

1 paper

NM_006005.3

p.M657L

c.1969A>T

3 papers

NM_006005.3

p.R653H

c.1958G>A

19 papers

NM_006005.3

p.R653C

c.1957C>T

2 papers

NM_006005.3

p.K658delFs

c.1973delA

2 papers

NM_006005.3

p.K658fs

c.1972_1973fs

1 paper

NM_006005.3

p.K658fs

c.1972_1973fs