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

3 papers

NM_006005.3

p.L592V

c.1774C>G

Surrounding Variants

1 paper

NM_006005.3

p.L592fs

c.1774_1775fs

1 paper

NM_006005.3

p.L592insFs

c.1775_1776ins4

3 papers

NM_006005.3

p.L592delFs

c.1775_1776delTG

1 paper

NM_006005.3

p.L592fs

c.1774_1775fs

2 papers

NM_006005.3

p.L592P

c.1775T>C

2 papers

NM_006005.3

p.E593fs

c.1777_1778fs

2 papers

NM_006005.3

p.T590T

c.1770G>A

2 papers

NM_006005.3

p.T590M

c.1769C>T

2 papers

NM_006005.3

p.E593D

c.1779G>C

2 papers

NM_006005.3

p.E593D

c.1779G>T

1 paper

NM_006005.3

p.L594R

c.1781T>G

7 papers

NM_006005.3

p.W588*

c.1764G>A