Varaico: Literature-Extracted Genetic Variants

Gene:CANX
Variant:p.K137*

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.K137*
c.409A>T
Surrounding Variants
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
4 papers
NM_001746.4
p.L140M
c.418C>A
1 paper
NM_001746.4
p.K134delFs
c.400delA
1 paper
NM_001746.4
p.F141I
c.421T>A
1 paper
NM_001746.4
p.S132F
c.395C>T
1 paper
NM_001746.4
p.D142_T143del2
c.424_428del6
1 paper
NM_001746.4
p.D142Y
c.424G>T
2 papers
NM_001746.4
p.D142G
c.425A>G
1 paper
NM_001746.4
p.A130V
c.389C>T
1 paper
NM_001746.4
p.A130P
c.388G>C
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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."