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.I720L

c.2158A>C

Surrounding Variants

24 papers

NM_006005.3

p.I720V

c.2158A>G

2 papers

NM_006005.3

p.A719A

c.2157C>T

1 paper

NM_006005.3

p.I720N

c.2159T>A

1 paper

NM_006005.3

p.M722_D729ins2

c.2164_2187dup24

2 papers

NM_006005.3

p.N721Y

c.2161A>T

1 paper

NM_006005.3

p.M722fs

c.2164_2165fs

1 paper

NM_006005.3

p.M722ins8

c.2164_2165ins24

1 paper

NM_006005.3

p.S718fs

c.2152_2153fs

1 paper

NM_006005.3

p.L723_P724insGGA

c.2167_2171ins9

13 papers

NM_006005.3

p.E717K

c.2149G>A

1 paper

NM_006005.3

p.E717insFs

c.2150dupA

1 paper

NM_006005.3

p.E717*

c.2149G>T