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.V599V

c.1797C>A

Surrounding Variants

3 papers

NM_006005.3

p.T600T

c.1800C>T

2 papers

NM_006005.3

p.A598T

c.1792G>A

1 paper

NM_006005.3

p.A602E

c.1805C>A

1 paper

NM_006005.3

p.A602G

c.1805C>G

11 papers

NM_006005.3

p.A602V

c.1805C>T

3 papers

NM_006005.3

p.A602A

c.1806G>A

1 paper

NM_006005.3

p.V603A

c.1808T>C

1 paper

NM_006005.3

p.C604Y

c.1811G>A

2 papers

NM_006005.3

p.S605insFs

c.1813_1814insA

1 paper

NM_006005.3

p.S605fs

c.1813_1814fs

2 papers

NM_006005.3

p.S605fs

c.1813_1814fs

1 paper

NM_006005.3

p.L594R

c.1781T>G