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.P428H

c.1283C>A

Surrounding Variants

4 papers

NM_006005.3

p.P428R

c.1283C>G

1 paper

NM_006005.3

p.C429R

c.1285T>C

6 papers

NM_006005.3

p.I427N

c.1280T>A

8 papers

NM_006005.3

p.I427S

c.1280T>G

3 papers

NM_006005.3

p.C429C

c.1287C>T

2 papers

NM_006005.3

p.S430*

c.1289C>A

5 papers

NM_006005.3

p.S430W

c.1289C>G

6 papers

NM_006005.3

p.S430L

c.1289C>T

6 papers

NM_006005.3

p.C426Y

c.1277G>A

2 papers

NM_006005.3

p.C426S

c.1277G>C

2 papers

NM_006005.3

p.S430S

c.1290G>A

2 papers

NM_006005.3

p.C426S

c.1276T>A