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.F417fs

c.1249_1250fs

Surrounding Variants

1 paper

NM_006005.3

p.F417V

c.1249T>G

1 paper

NM_006005.3

p.F417fs

c.1249_1250fs

1 paper

NM_006005.3

p.F417S

c.1250T>C

3 papers

NM_006005.3

p.F417_S418Fs

c.1251_1252delinsGFs

1 paper

NM_006005.3

p.I416N

c.1247T>A

4 papers

NM_006005.3

p.F417del1

c.1249_1250delTTC

1 paper

NM_006005.3

p.S418_F419delFs

c.1254_1255delCT

1 paper

NM_006005.3

p.F419ins1

c.1255_1256insCTT

1 paper

NM_006005.3

p.F419delFs

c.1255delT

1 paper

NM_006005.3

p.V415D

c.1244T>A

1 paper

NM_006005.3

p.V415A

c.1244T>C

1 paper

NM_006005.3

p.V415I

c.1243G>A