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.A307V

c.920C>T

Surrounding Variants

1 paper

NM_006005.3

p.S308Y

c.923C>A

10 papers

NM_006005.3

p.S308C

c.923C>G

3 papers

NM_006005.3

p.M306T

c.917T>C

2 papers

NM_006005.3

p.I304T

c.911T>C

3 papers

NM_006005.3

p.A310A

c.930A>G

2 papers

NM_006005.3

p.G311D

c.932G>A

16 papers

NM_006005.3

p.L303P

c.908T>C

1 paper

NM_006005.3

p.L303fs

c.907_908fs

4 papers

NM_006005.3

p.I304_D305insFs

c.911_914dup4

1 paper

NM_006005.3

p.L303L

c.907C>T

1 paper

NM_006005.3

p.G311_M312Fs

c.933_935delinsTTFs

1 paper

NM_006005.3

p.H313_W314insFs

c.937_941dup5