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.D339A

c.1016A>C

Surrounding Variants

3 papers

NM_006005.3

p.D339N

c.1015G>A

1 paper

NM_006005.3

p.I338I

c.1014C>A

1 paper

NM_006005.3

p.I338V

c.1012A>G

1 paper

NM_006005.3

p.I338F

c.1012A>T

4 papers

NM_006005.3

p.T337I

c.1010C>T

1 paper

NM_006005.3

p.T337_I338delFs

c.1011_1012delCA

11 papers

NM_006005.3

p.F341F

c.1023C>T

4 papers

NM_006005.3

p.A342T

c.1024G>A

1 paper

NM_006005.3

p.F343delFs

c.1027delT

1 paper

NM_006005.3

p.F343_L347delFs

c.1027_1040del14

1 paper

NM_006005.3

p.F343fs

c.1027_1028fs

1 paper

NM_006005.3

p.F343fs

c.1027_1028fs