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

7 papers

NM_006005.3

p.T361I

c.1082C>T

Surrounding Variants

1 paper

NM_006005.3

p.C360C

c.1080C>T

5 papers

NM_006005.3

p.C360Y

c.1079G>A

1 paper

NM_006005.3

p.C360delFs

c.1080delC

1 paper

NM_006005.3

p.K363E

c.1087A>G

1 paper

NM_006005.3

p.K363T

c.1088A>C

1 paper

NM_006005.3

p.I359L

c.1075A>C

1 paper

NM_006005.3

p.V364_F365insG

c.1090_1094ins3

2 papers

NM_006005.3

p.V358M

c.1072G>A

2 papers

NM_006005.3

p.V358L

c.1072G>C

2 papers

NM_006005.3

p.V358L

c.1072G>T

2 papers

NM_006005.3

p.Q366_K369insFs

c.1097_1107dup11

20 papers

NM_006005.3

p.Q366*

c.1096C>T