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.E753*

c.2257G>T

Surrounding Variants

1 paper

NM_006005.3

p.L754delFs

c.2260delC

5 papers

NM_006005.3

p.L754_C755delFs

c.2262_2263delCT

1 paper

NM_006005.3

p.L754fs

c.2260_2261fs

4 papers

NM_006005.3

p.E752K

c.2254G>A

24 papers

NM_006005.3

p.E752*

c.2254G>T

1 paper

NM_006005.3

p.L754P

c.2261T>C

1 paper

NM_006005.3

p.C755S

c.2263T>A

4 papers

NM_006005.3

p.C755R

c.2263T>C

1 paper

NM_006005.3

p.C755fs

c.2263_2264fs

2 papers

NM_006005.3

p.C755fs

c.2263_2264fs

3 papers

NM_006005.3

p.A750A

c.2250C>T

1 paper

NM_006005.3

p.C755S

c.2264G>C