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.V620fs

c.1858_1859fs

Surrounding Variants

1 paper

NM_006005.3

p.S619F

c.1856C>T

1 paper

NM_006005.3

p.V620delFs

c.1859_1860delTG

1 paper

NM_006005.3

p.S619fs

c.1855_1856fs

1 paper

NM_006005.3

p.S619delFs

c.1856_1857delCT

1 paper

NM_006005.3

p.M623delFs

c.1867delA

2 papers

NM_006005.3

p.M623fs

c.1867_1868fs

1 paper

NM_006005.3

p.A616V

c.1847C>T

15 papers

NM_006005.3

p.A616S

c.1846G>T

7 papers

NM_006005.3

p.V624A

c.1871T>C

17 papers

NM_006005.3

p.W613*

c.1839G>A

18 papers

NM_006005.3

p.W613*

c.1838G>A

1 paper

NM_006005.3

p.T614_G622del0

c.1840_1866del27