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.Y508*

c.1524T>G

Surrounding Variants

1 paper

NM_006005.3

p.Y508*

c.1524T>A

1 paper

NM_006005.3

p.V509_L514insFs

c.1525_1540dup16

5 papers

NM_006005.3

p.Y508C

c.1523A>G

2 papers

NM_006005.3

p.V509_Y513delFs

c.1525_1537del13

1 paper

NM_006005.3

p.V509fs

c.1525_1526fs

1 paper

NM_006005.3

p.V509fs

c.1525_1526fs

1 paper

NM_006005.3

p.Y510_F515del0

c.1529_1543del15

1 paper

NM_006005.3

p.V509A

c.1526T>C

4 papers

NM_006005.3

p.V509G

c.1526T>G

5 papers

NM_006005.3

p.Y508fs

c.1522_1523fs

6 papers

NM_006005.3

p.Y508fs

c.1522_1523fs

1 paper

NM_006005.3

p.L507L

c.1521C>T