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.G576_V582ins2

c.1727_1744dup18

Surrounding Variants

4 papers

NM_006005.3

p.A575G

c.1724C>G

2 papers

NM_006005.3

p.A575_G581del0

c.1725_1742del18

9 papers

NM_006005.3

p.A575A

c.1725C>T

23 papers

NM_006005.3

p.G576S

c.1726G>A

1 paper

NM_006005.3

p.A575_F585del11

c.1723_1754del33

2 papers

NM_006005.3

p.L573V

c.1717C>G

2 papers

NM_006005.3

p.L579L

c.1737G>A

1 paper

NM_006005.3

p.V580fs

c.1738_1739fs

2 papers

NM_006005.3

p.V580E

c.1739T>A

6 papers

NM_006005.3

p.A569V

c.1706C>T

2 papers

NM_006005.3

p.G581G

c.1743C>T

1 paper

NM_006005.3

p.V582delFs

c.1745_1746delTG