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.R456L

c.1367G>T

Surrounding Variants

62 papers

NM_006005.3

p.R456H

c.1367G>A

1 paper

NM_006005.3

p.R456fs

c.1366_1367fs

6 papers

NM_006005.3

p.R456C

c.1366C>T

3 papers

NM_006005.3

p.R457G

c.1369A>G

2 papers

NM_006005.3

p.T455T

c.1365G>A

1 paper

NM_006005.3

p.R456del1

c.1366_1367delCGC

5 papers

NM_006005.3

p.T455M

c.1364C>T

20 papers

NM_006005.3

p.R457S

c.1371G>C

22 papers

NM_006005.3

p.R457S

c.1371G>T

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.A458S

c.1372G>T