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

5 papers

NM_006005.3

p.R375C

c.1123C>T

Surrounding Variants

2 papers

NM_006005.3

p.F374L

c.1122C>A

2 papers

NM_006005.3

p.F374L

c.1122C>G

1 paper

NM_006005.3

p.R375_T376delFs

c.1123_1126del4

9 papers

NM_006005.3

p.R375H

c.1124G>A

2 papers

NM_006005.3

p.F374L

c.1120T>C

1 paper

NM_006005.3

p.N373_R375del0

c.1118_1123del6

2 papers

NM_006005.3

p.E372D

c.1116G>C

2 papers

NM_006005.3

p.E372D

c.1116G>T

1 paper

NM_006005.3

p.N373delFs

c.1117_1118delAA

1 paper

NM_006005.3

p.T378N

c.1133C>A

20 papers

NM_006005.3

p.W371*

c.1113G>A

3 papers

NM_006005.3

p.T378T

c.1134C>A