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.P453L

c.1358C>T

Surrounding Variants

1 paper

NM_006005.3

p.P453fs

c.1357_1358fs

1 paper

NM_006005.3

p.P453_Y454delFs

c.1358_1361del4

1 paper

NM_006005.3

p.E452Fs

c.1356delinsGCAFs

2 papers

NM_006005.3

p.P453delFs

c.1357delC

3 papers

NM_006005.3

p.Y454fs

c.1360_1361fs

1 paper

NM_006005.3

p.Y454fs

c.1360_1361fs

12 papers

NM_006005.3

p.Y454_L459delFs

c.1362_1377del16

3 papers

NM_006005.3

p.E452_R457delFs

c.1356_1371del16

8 papers

NM_006005.3

p.Y454*

c.1362C>A

8 papers

NM_006005.3

p.Y454*

c.1362C>G

1 paper

NM_006005.3

p.E452fs

c.1354_1355fs

2 papers

NM_006005.3

p.E452fs

c.1354_1355fs