Varaico: Literature-Extracted Genetic Variants

Gene:CBX5
Variant:p.T8A

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
Selected Variant
1 paper
NM_012117.3
p.T8A
c.22A>G
Surrounding Variants
1 paper
NM_012117.3
p.R7Q
c.20G>A
1 paper
NM_012117.3
p.K6M
c.17A>T
1 paper
NM_012117.3
p.D10insFs
c.28_29insA
1 paper
NM_012117.3
p.D10N
c.28G>A
1 paper
NM_012117.3
p.D10A
c.29A>C
3 papers
NM_012117.3
p.K4R
c.11A>G
1 paper
NM_012117.3
p.K3N
c.9G>T
1 paper
NM_012117.3
p.K3N
c.9G>C
1 paper
NM_012117.3
p.G2R
c.4G>C
1 paper
NM_012117.3
p.G2R
c.4G>A
1 paper
NM_012117.3
p.S14L
c.41C>T
1 paper
NM_012117.3
p.M1T
c.2T>C
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