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.L637fs

c.1909_1910fs

Surrounding Variants

2 papers

NM_006005.3

p.I636I

c.1908C>T

2 papers

NM_006005.3

p.L637P

c.1910T>C

3 papers

NM_006005.3

p.W639G

c.1915T>G

22 papers

NM_006005.3

p.K634T

c.1901A>C

1 paper

NM_006005.3

p.K634M

c.1901A>T

2 papers

NM_006005.3

p.L640_I643delFs

c.1919_1929del11

1 paper

NM_006005.3

p.K634Q

c.1900A>C

3 papers

NM_006005.3

p.K634*

c.1900A>T

2 papers

NM_006005.3

p.L640fs

c.1918_1919fs

1 paper

NM_006005.3

p.L640fs

c.1918_1919fs

1 paper

NM_006005.3

p.L640_I643delFs

c.1919_1928del10

1 paper

NM_006005.3

p.V633D

c.1898T>A