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

25 papers

NM_006005.3

p.W648*

c.1944G>A

Surrounding Variants

25 papers

NM_006005.3

p.W648*

c.1943G>A

3 papers

NM_006005.3

p.W648L

c.1943G>T

1 paper

NM_006005.3

p.W648R

c.1942T>A

1 paper

NM_006005.3

p.W648R

c.1942T>C

7 papers

NM_006005.3

p.C647*

c.1941C>A

7 papers

NM_006005.3

p.Y650delFs

c.1949_1950delAT

3 papers

NM_006005.3

p.Y650H

c.1948T>C

2 papers

NM_006005.3

p.Y650fs

c.1948_1949fs

1 paper

NM_006005.3

p.Y650fs

c.1948_1949fs

3 papers

NM_006005.3

p.Y650C

c.1949A>G

1 paper

NM_006005.3

p.C647_Y650del4

c.1939_1949del12

1 paper

NM_006005.3

p.F646delFs

c.1938delC