Varaico: Literature-Extracted Genetic Variants

Gene:CBX3

CBX3

33 papers

RefSeq Summary

At the nuclear envelope, the nuclear lamina and heterochromatin are adjacent to the inner nuclear membrane. The protein encoded by this gene binds DNA and is a component of heterochromatin. This prote...

Pfam Domains

Chromoaa 30–79UCSCChromo (CHRromatin Organisation MOdifier) domain
Chromo_shadowaa 117–177UCSCChromo shadow domain

Gene Aliases

HGNC Name

chromobox 3

HGNC Alias Symbols

HP1Hs-gamma; HP1gamma

Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
3 papers
NM_016587.4
p.A110_A111Splc
c.330+3A>G
2 papers
NM_016587.4
p.M1insFs
c.2_3insC
2 papers
NM_016587.4
p.V22I
c.64G>A
2 papers
NM_016587.4
p.D56Splc
c.167+2T>G
1 paper
NM_016587.4
p.M1insFs
c.2_3ins31
1 paper
NM_016587.4
p.G12fs
c.34_35fs
1 paper
NM_016587.4
p.G12E
c.35G>A
1 paper
NM_016587.4
p.V32M
c.94G>A
1 paper
NM_016587.4
p.V41M
c.121G>A
1 paper
NM_016587.4
p.Y47*
c.141T>A
1 paper
NM_016587.4
p.W51C
c.153G>C
1 paper
NM_016587.4
p.W51C
c.153G>T
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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."