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

2 papers

NM_006005.3

p.S544C

c.1631C>G

Surrounding Variants

2 papers

NM_006005.3

p.S544S

c.1632C>T

5 papers

NM_006005.3

p.V545M

c.1633G>A

1 paper

NM_006005.3

p.V545L

c.1633G>C

1 paper

NM_006005.3

p.V545L

c.1633G>T

19 papers

NM_006005.3

p.L543R

c.1628T>G

1 paper

NM_006005.3

p.L543fs

c.1627_1628fs

7 papers

NM_006005.3

p.V546D

c.1637T>A

1 paper

NM_006005.3

p.C541*

c.1623T>A

2 papers

NM_006005.3

p.C541W

c.1623T>G

1 paper

NM_006005.3

p.E542del1

c.1624_1625delGAG

13 papers

NM_006005.3

p.W540*

c.1620G>A

12 papers

NM_006005.3

p.W540*

c.1619G>A