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.F564del1

c.1690_1691delTTC

Surrounding Variants

5 papers

NM_006005.3

p.F566_F568del0

c.1698_1703del6

2 papers

NM_006005.3

p.L565del1

c.1693_1694delCTC

1 paper

NM_006005.3

p.Y563_L565del3

c.1687_1694del9

3 papers

NM_006005.3

p.G562S

c.1684G>A

2 papers

NM_006005.3

p.L565V

c.1693C>G

4 papers

NM_006005.3

p.I561I

c.1683C>T

3 papers

NM_006005.3

p.I561S

c.1682T>G

2 papers

NM_006005.3

p.G562del1

c.1684_1685delGGC

1 paper

NM_006005.3

p.I561V

c.1681A>G

1 paper

NM_006005.3

p.L567_F568ins0

c.1699_1704dup6

5 papers

NM_006005.3

p.L567_F568del0

c.1699_1704del6

5 papers

NM_006005.3

p.A559D

c.1676C>A