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

3 papers

NM_006005.3

p.V644M

c.1930G>A

Surrounding Variants

2 papers

NM_006005.3

p.V644fs

c.1930_1931fs

3 papers

NM_006005.3

p.F646_W648delFs

c.1936_1943del8

2 papers

NM_006005.3

p.I643I

c.1929C>T

1 paper

NM_006005.3

p.I643S

c.1928T>G

1 paper

NM_006005.3

p.I643V

c.1927A>G

2 papers

NM_006005.3

p.A642V

c.1925C>T

2 papers

NM_006005.3

p.L645L

c.1935G>T

3 papers

NM_006005.3

p.F646fs

c.1936_1937fs

2 papers

NM_006005.3

p.F646fs

c.1936_1937fs

1 paper

NM_006005.3

p.F646delFs

c.1938delC

2 papers

NM_006005.3

p.T641K

c.1922C>A

1 paper

NM_006005.3

p.T641M

c.1922C>T