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

18 papers

NM_006005.3

p.E776V

c.2327A>T

Surrounding Variants

1 paper

NM_006005.3

p.E776K

c.2326G>A

1 paper

NM_006005.3

p.F775fs

c.2323_2324fs

10 papers

NM_006005.3

p.K774K

c.2322G>A

2 papers

NM_006005.3

p.T778T

c.2334C>T

2 papers

NM_006005.3

p.Y773*

c.2319C>A

2 papers

NM_006005.3

p.Y773*

c.2319C>G

25 papers

NM_006005.3

p.V779M

c.2335G>A

1 paper

NM_006005.3

p.Y773C

c.2318A>G

8 papers

NM_006005.3

p.V779G

c.2336T>G

2 papers

NM_006005.3

p.R772_Y773insFs

c.2316_2317insT

1 paper

NM_006005.3

p.R772R

c.2316C>T

11 papers

NM_006005.3

p.G780S

c.2338G>A