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.V288fs

c.862_863fs

Surrounding Variants

2 papers

NM_006005.3

p.V288M

c.862G>A

2 papers

NM_006005.3

p.K287_V288Splc

c.862-1G>A

1 paper

NM_006005.3

p.K287_V288Splc

c.862-1G>C

1 paper

NM_006005.3

p.V288E

c.863T>A

1 paper

NM_006005.3

p.V288G

c.863T>G

1 paper

NM_006005.3

p.K287_V288Splc

c.862-2A>G

2 papers

NM_006005.3

p.K287_V288Splc

c.862-3C>G

2 papers

NM_006005.3

p.Y291fs

c.871_872fs

5 papers

NM_006005.3

p.P292insFs

c.876dupC

6 papers

NM_006005.3

p.L293delFs

c.877delC

9 papers

NM_006005.3

p.Y291*

c.873C>A

9 papers

NM_006005.3

p.Y291*

c.873C>G