Varaico: Literature-Extracted Genetic Variants

Gene:CBX5

CBX5

160 papers

RefSeq Summary

This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family. The protein is enriched in the heterochromatin and associated with centromeres. The pr...

Pfam Domains

Chromoaa 20–69UCSCChromo (CHRromatin Organisation MOdifier) domain
Chromo_shadowaa 117–177UCSCChromo shadow domain

Gene Aliases

HGNC Name

chromobox 5

HGNC Alias Symbols

HP1Hs-alpha; HP1; HP1-ALPHA; HP1alpha

Papers
RefSeq ID
Protein change
DNA change
1–12 of 128 variants
5 papers
NM_012117.3
p.V21I
c.61G>A
3 papers
NM_012117.3
p.K4R
c.11A>G
3 papers
NM_012117.3
p.S92A
c.274T>G
3 papers
NM_012117.3
p.K106delFs
c.317delT
2 papers
NM_012117.3
p.V22M
c.64G>A
2 papers
NM_012117.3
p.L57F
c.171G>T
2 papers
NM_012117.3
p.L57F
c.171G>C
2 papers
NM_012117.3
p.G76C
c.226G>T
2 papers
NM_012117.3
p.K91E
c.271A>G
2 papers
NM_012117.3
p.F94L
c.280T>C
2 papers
NM_012117.3
p.F94L
c.282C>G
2 papers
NM_012117.3
p.F94L
c.282C>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."