Varaico: Literature-Extracted Genetic Variants

Gene:CANX
Variant:p.V42E

CANX

662 papers

RefSeq Summary

This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly...

Pfam Domains

Calreticulinaa 71–440UCSCCalreticulin family
Calreticulinaa 271–474UCSCCalreticulin family

Gene Aliases

HGNC Name

calnexin

HGNC Alias Symbols

CNX; IP90; P90

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001746.4
p.V42E
c.125T>A
Surrounding Variants
1 paper
NM_001746.4
p.V42A
c.125T>C
1 paper
NM_001746.4
p.E41D
c.123G>C
1 paper
NM_001746.4
p.E43Q
c.127G>C
2 papers
NM_001746.4
p.E40D
c.120A>T
1 paper
NM_001746.4
p.D44E
c.132C>A
1 paper
NM_001746.4
p.V38F
c.112G>T
1 paper
NM_001746.4
p.P47A
c.139C>G
1 paper
NM_001746.4
p.D48delFs
c.142_143delGA
1 paper
NM_001746.4
p.D37_V38insCC
c.109_113ins6
1 paper
NM_001746.4
p.D36E
c.108C>G
1 paper
NM_001746.4
p.D36V
c.107A>T
1 paper
NM_001746.4
p.D48V
c.143A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."