Varaico: Literature-Extracted Genetic Variants

Gene:CANX
Variant:p.A126A

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.A126A
c.378C>T
Surrounding Variants
1 paper
NM_001746.4
p.A126T
c.376G>A
2 papers
NM_001746.4
p.H128D
c.382C>G
1 paper
NM_001746.4
p.H129Y
c.385C>T
1 paper
NM_001746.4
p.M123I
c.369G>T
1 paper
NM_001746.4
p.A130P
c.388G>C
1 paper
NM_001746.4
p.A130V
c.389C>T
1 paper
NM_001746.4
p.S132F
c.395C>T
1 paper
NM_001746.4
p.L120F
c.358C>T
1 paper
NM_001746.4
p.K134delFs
c.400delA
1 paper
NM_001746.4
p.L135Q
c.404T>A
1 paper
NM_001746.4
p.L135P
c.404T>C
1 paper
NM_001746.4
p.L135R
c.404T>G
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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."