Varaico: Literature-Extracted Genetic Variants

Gene:CANX
Variant:p.C8*

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.C8*
c.24T>A
Surrounding Variants
1 paper
NM_001746.4
p.M9L
c.25A>T
1 paper
NM_001746.4
p.C8R
c.22T>C
1 paper
NM_001746.4
p.L7Q
c.20T>A
1 paper
NM_001746.4
p.L10_L11insFs
c.30_31ins13
2 papers
NM_001746.4
p.L6F
c.18G>C
1 paper
NM_001746.4
p.L6F
c.18G>T
1 paper
NM_001746.4
p.L6*
c.17T>A
1 paper
NM_001746.4
p.V12_V18del7
c.34_53del21
1 paper
NM_001746.4
p.K4K
c.12G>A
1 paper
NM_001746.4
p.V12V
c.36G>A
1 paper
NM_001746.4
p.L13insFs
c.37_38insCC
1 paper
NM_001746.4
p.K4_L6delFs
c.12_18del7
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