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

1–12 of 1647 variants

79 papers

NM_006005.3

p.A684V

c.2051C>T

63 papers

NM_006005.3

p.R558C

c.1672C>T

63 papers

NM_006005.3

p.E864K

c.2590G>A

62 papers

NM_006005.3

p.R456H

c.1367G>A

48 papers

NM_006005.3

p.G674R

c.2020G>A

47 papers

NM_006005.3

p.R629W

c.1885C>T

47 papers

NM_006005.3

p.G674R

c.2020G>C

47 papers

NM_006005.3

p.A716T

c.2146G>A

44 papers

NM_006005.3

p.R611H

c.1832G>A

41 papers

NM_006005.3

p.P724L

c.2171C>T

41 papers

NM_006005.3

p.R818C

c.2452C>T

34 papers

NM_006005.3

p.V333I

c.997G>A