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

5 papers

NM_006005.3

p.R676C

c.2026C>T

Surrounding Variants

5 papers

NM_006005.3

p.R676H

c.2027G>A

1 paper

NM_006005.3

p.P675S

c.2023C>T

6 papers

NM_006005.3

p.A677T

c.2029G>A

22 papers

NM_006005.3

p.G674E

c.2021G>A

19 papers

NM_006005.3

p.G674V

c.2021G>T

48 papers

NM_006005.3

p.G674R

c.2020G>A

47 papers

NM_006005.3

p.G674R

c.2020G>C

6 papers

NM_006005.3

p.G674W

c.2020G>T

2 papers

NM_006005.3

p.W678R

c.2032T>A

2 papers

NM_006005.3

p.W678R

c.2032T>C

1 paper

NM_006005.3

p.W678G

c.2032T>G

2 papers

NM_006005.3

p.C673C

c.2019C>T