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

2 papers

NM_006005.3

p.I328del1

c.982_983delATC

Surrounding Variants

1 paper

NM_006005.3

p.L327I

c.979C>A

17 papers

NM_006005.3

p.A326V

c.977C>T

1 paper

NM_006005.3

p.I328fs

c.982_983fs

1 paper

NM_006005.3

p.F331del1

c.991_992delTTC

1 paper

NM_006005.3

p.I328_F331delFs

c.983_993del11

2 papers

NM_006005.3

p.A326T

c.976G>A

1 paper

NM_006005.3

p.A326S

c.976G>T

3 papers

NM_006005.3

p.N325N

c.975C>T

6 papers

NM_006005.3

p.F329I

c.985T>A

2 papers

NM_006005.3

p.I324M

c.972C>G

1 paper

NM_006005.3

p.F329S

c.986T>C

1 paper

NM_006005.3

p.I324T

c.971T>C