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.V415I

c.1243G>A

Surrounding Variants

1 paper

NM_006005.3

p.V415fs

c.1243_1244fs

1 paper

NM_006005.3

p.V415F

c.1243G>T

1 paper

NM_006005.3

p.V415D

c.1244T>A

1 paper

NM_006005.3

p.V415A

c.1244T>C

4 papers

NM_006005.3

p.F417del1

c.1249_1250delTTC

31 papers

NM_006005.3

p.V415del1

c.1243_1244delGTC

1 paper

NM_006005.3

p.I416N

c.1247T>A

1 paper

NM_006005.3

p.F414_S418del5

c.1240_1253del15

3 papers

NM_006005.3

p.F413V

c.1237T>G

1 paper

NM_006005.3

p.F417V

c.1249T>G

1 paper

NM_006005.3

p.F417fs

c.1249_1250fs

2 papers

NM_006005.3

p.F417fs

c.1249_1250fs