Varaico: Literature-Extracted Genetic Variants

Gene:CANX
Variant:p.L262P

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.L262P
c.785T>C
Surrounding Variants
1 paper
NM_001746.4
p.N264D
c.790A>G
1 paper
NM_001746.4
p.G260R
c.778G>A
1 paper
NM_001746.4
p.G260R
c.778G>C
2 papers
NM_001746.4
p.N258D
c.772A>G
1 paper
NM_001746.4
p.N258_N264delFs
c.772_790del19
1 paper
NM_001746.4
p.Q254insFs
c.760_761insA
1 paper
NM_001746.4
p.D253H
c.757G>C
1 paper
NM_001746.4
p.L251P
c.752T>C
1 paper
NM_001746.4
p.R274H
c.821G>A
1 paper
NM_001746.4
p.F248C
c.743T>G
1 paper
NM_001746.4
p.F248L
c.742T>C
1 paper
NM_001746.4
p.N246K
c.738T>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."