Varaico: Literature-Extracted Genetic Variants

Gene:CANX
Variant:p.E216K

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.E216K
c.646G>A
Surrounding Variants
1 paper
NM_001746.4
p.I213F
c.637A>T
1 paper
NM_001746.4
p.K220E
c.658A>G
1 paper
NM_001746.4
p.G212C
c.634G>T
1 paper
NM_001746.4
p.K220R
c.659A>G
2 papers
NM_001746.4
p.K210R
c.629A>G
2 papers
NM_001746.4
p.H206L
c.617A>T
1 paper
NM_001746.4
p.L226L
c.676C>T
2 papers
NM_001746.4
p.R205Q
c.614G>A
2 papers
NM_001746.4
p.R205*
c.613C>T
2 papers
NM_001746.4
p.I203M
c.609C>G
1 paper
NM_001746.4
p.I203I
c.609C>T
1 paper
NM_001746.4
p.F230I
c.688T>A
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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."