Varaico: Literature-Extracted Genetic Variants

Gene:CANX
Variant:p.A72A

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.A72A
c.216T>A
Surrounding Variants
1 paper
NM_001746.4
p.A72_D73insFs
c.216_217insA
1 paper
NM_001746.4
p.A72T
c.214G>A
1 paper
NM_001746.4
p.F71Y
c.212T>A
1 paper
NM_001746.4
p.F71S
c.212T>C
1 paper
NM_001746.4
p.F75_D76del2
c.223_227del6
1 paper
NM_001746.4
p.D76N
c.226G>A
1 paper
NM_001746.4
p.D76H
c.226G>C
1 paper
NM_001746.4
p.V69A
c.206T>C
1 paper
NM_001746.4
p.E68insFs
c.203_204insC
1 paper
NM_001746.4
p.G67G
c.201G>C
1 paper
NM_001746.4
p.G67E
c.200G>A
1 paper
NM_001746.4
p.G67A
c.200G>C
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