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.F414_V415del2

c.1240_1244del6

Surrounding Variants

3 papers

NM_006005.3

p.F413V

c.1237T>G

1 paper

NM_006005.3

p.F414_S418del5

c.1240_1253del15

23 papers

NM_006005.3

p.V412A

c.1235T>C

6 papers

NM_006005.3

p.V412L

c.1234G>C

8 papers

NM_006005.3

p.V412fs

c.1234_1235fs

16 papers

NM_006005.3

p.V412fs

c.1234_1235fs

12 papers

NM_006005.3

p.F414del1

c.1240_1241delTTC

31 papers

NM_006005.3

p.V415del1

c.1243_1244delGTC

1 paper

NM_006005.3

p.V412_F413del2

c.1234_1238del6

3 papers

NM_006005.3

p.S411F

c.1232C>T

1 paper

NM_006005.3

p.V415I

c.1243G>A

1 paper

NM_006005.3

p.V415fs

c.1243_1244fs