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.Y652S

c.1955A>C

Surrounding Variants

7 papers

NM_006005.3

p.Y652*

c.1956C>A

7 papers

NM_006005.3

p.Y652*

c.1956C>G

19 papers

NM_006005.3

p.R653C

c.1957C>T

3 papers

NM_006005.3

p.R653H

c.1958G>A

3 papers

NM_006005.3

p.Y650C

c.1949A>G

2 papers

NM_006005.3

p.S654*

c.1961C>A

2 papers

NM_006005.3

p.S654*

c.1961C>G

3 papers

NM_006005.3

p.Y650H

c.1948T>C

2 papers

NM_006005.3

p.Y650fs

c.1948_1949fs

1 paper

NM_006005.3

p.Y650fs

c.1948_1949fs

7 papers

NM_006005.3

p.Y650delFs

c.1949_1950delAT

5 papers

NM_006005.3

p.E655K

c.1963G>A