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

9 papers

NM_006005.3

p.Y528D

c.1582T>G

Surrounding Variants

3 papers

NM_006005.3

p.Y528H

c.1582T>C

2 papers

NM_006005.3

p.Y528insFs

c.1582_1583insC

1 paper

NM_006005.3

p.Y528fs

c.1582_1583fs

1 paper

NM_006005.3

p.Y528fs

c.1582_1583fs

1 paper

NM_006005.3

p.Y528_C529insFs

c.1584_1585dupCT

1 paper

NM_006005.3

p.Y528S

c.1583A>C

5 papers

NM_006005.3

p.Y528*

c.1584C>A

7 papers

NM_006005.3

p.Y528*

c.1584C>G

2 papers

NM_006005.3

p.T527I

c.1580C>T

4 papers

NM_006005.3

p.T527_Y528insFs

c.1581_1582insC

1 paper

NM_006005.3

p.T527_Y528ins4

c.1579_1583ins12

1 paper

NM_006005.3

p.C529fs

c.1585_1586fs