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.V875M

c.2623G>A

Surrounding Variants

1 paper

NM_006005.3

p.V875A

c.2624T>C

7 papers

NM_006005.3

p.A874T

c.2620G>A

4 papers

NM_006005.3

p.K876T

c.2627A>C

2 papers

NM_006005.3

p.G873G

c.2619C>T

2 papers

NM_006005.3

p.F877F

c.2631C>T

2 papers

NM_006005.3

p.A878T

c.2632G>A

1 paper

NM_006005.3

p.D880_F881del0

c.2638_2643del6

2 papers

NM_006005.3

p.H872del1

c.2614_2615delCAT

1 paper

NM_006005.3

p.A878A

c.2634C>T

6 papers

NM_006005.3

p.V871G

c.2612T>G

25 papers

NM_006005.3

p.V871M

c.2611G>A

2 papers

NM_006005.3

p.T870T

c.2610C>T