Varaico: Literature-Extracted Genetic Variants

Gene:CANX
Variant:p.I293N

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.I293N
c.878T>A
Surrounding Variants
1 paper
NM_001746.4
p.P291A
c.871C>G
1 paper
NM_001746.4
p.P291S
c.871C>T
1 paper
NM_001746.4
p.P296S
c.886C>T
1 paper
NM_001746.4
p.A298T
c.892G>A
1 paper
NM_001746.4
p.A298G
c.893C>G
3 papers
NM_001746.4
p.P301S
c.901C>T
4 papers
NM_001746.4
p.P301L
c.902C>T
1 paper
NM_001746.4
p.P284L
c.851C>T
1 paper
NM_001746.4
p.R282W
c.844C>T
1 paper
NM_001746.4
p.W304Splc
c.911+1G>A
1 paper
NM_001746.4
p.E280A
c.839A>C
2 papers
NM_001746.4
p.P279L
c.836C>T
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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."