Varaico: Literature-Extracted Genetic Variants

Gene:CANX
Variant:p.M1L

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
3 papers
NM_001746.4
p.M1L
c.1A>C
Surrounding Variants
3 papers
NM_001746.4
p.M1L
c.1A>T
1 paper
NM_001746.4
p.M1R
c.2T>G
1 paper
NM_001746.4
p.M1I
c.3G>A
1 paper
NM_001746.4
p.M1I
c.3G>C
1 paper
NM_001746.4
p.M1I
c.3G>T
1 paper
NM_001746.4
p.M1insFs
c.1_2ins10
1 paper
NM_001746.4
p.E2insFs
c.5_6insC
1 paper
NM_001746.4
p.E2G
c.5A>G
1 paper
NM_001746.4
p.E2V
c.5A>T
1 paper
NM_001746.4
p.E2E
c.6A>G
1 paper
NM_001746.4
p.G3V
c.8G>T
1 paper
NM_001746.4
p.K4E
c.10A>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."