Varaico: Literature-Extracted Genetic Variants

Gene:CANX
Variant:p.D33E

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.D33E
c.99T>G
Surrounding Variants
1 paper
NM_001746.4
p.D33E
c.99T>A
1 paper
NM_001746.4
p.D34_E40delFs
c.100_118del19
1 paper
NM_001746.4
p.D33A
c.98A>C
1 paper
NM_001746.4
p.D34E
c.102C>A
1 paper
NM_001746.4
p.E32*
c.94G>T
1 paper
NM_001746.4
p.D36V
c.107A>T
1 paper
NM_001746.4
p.D36E
c.108C>G
1 paper
NM_001746.4
p.D37_V38insCC
c.109_113ins6
1 paper
NM_001746.4
p.D30N
c.88G>A
1 paper
NM_001746.4
p.D30_I31ins13
c.88_92ins39
1 paper
NM_001746.4
p.V38F
c.112G>T
1 paper
NM_001746.4
p.I29Fs
c.86delinsTGFs
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