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.C742fs

c.2224_2225fs

Surrounding Variants

1 paper

NM_006005.3

p.C742R

c.2224T>C

5 papers

NM_006005.3

p.C742G

c.2224T>G

1 paper

NM_006005.3

p.C742fs

c.2224_2225fs

2 papers

NM_006005.3

p.C742insFs

c.2224_2225insT

1 paper

NM_006005.3

p.C742Y

c.2225G>A

2 papers

NM_006005.3

p.C742insFs

c.2225_2226insT

1 paper

NM_006005.3

p.C742W

c.2226C>G

2 papers

NM_006005.3

p.Y739*

c.2217C>A

2 papers

NM_006005.3

p.Y739*

c.2217C>G

1 paper

NM_006005.3

p.P740_A741del2

c.2218_2222del6

1 paper

NM_006005.3

p.G745fs

c.2233_2234fs

1 paper

NM_006005.3

p.Y739D

c.2215T>G