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

1 paper

NM_006005.3

p.P782L

c.2345C>T

Surrounding Variants

3 papers

NM_006005.3

p.F783L

c.2347T>C

3 papers

NM_006005.3

p.M781delFs

c.2343delG

1 paper

NM_006005.3

p.M781fs

c.2341_2342fs

3 papers

NM_006005.3

p.M781fs

c.2341_2342fs

3 papers

NM_006005.3

p.F783L

c.2349C>A

3 papers

NM_006005.3

p.F783L

c.2349C>G

7 papers

NM_006005.3

p.G780A

c.2339G>C

11 papers

NM_006005.3

p.G780S

c.2338G>A

12 papers

NM_006005.3

p.G780R

c.2338G>C

8 papers

NM_006005.3

p.V779G

c.2336T>G

2 papers

NM_006005.3

p.S785S

c.2355C>T

25 papers

NM_006005.3

p.V779M

c.2335G>A