Varaico: Literature-Extracted Genetic Variants

Gene:CANX
Variant:p.D192A

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.D192A
c.575A>C
Surrounding Variants
2 papers
NM_001746.4
p.D192G
c.575A>G
1 paper
NM_001746.4
p.D192Y
c.574G>T
1 paper
NM_001746.4
p.K193E
c.577A>G
1 paper
NM_001746.4
p.C194G
c.580T>G
2 papers
NM_001746.4
p.C194F
c.581G>T
1 paper
NM_001746.4
p.G195insFs
c.584_585insA
2 papers
NM_001746.4
p.E196K
c.586G>A
4 papers
NM_001746.4
p.I187F
c.559A>T
1 paper
NM_001746.4
p.T186K
c.557C>A
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.H180_D181insFs
c.540_543dup4
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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."