Varaico: Literature-Extracted Genetic Variants

Gene:CBX5
Variant:p.G76C

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
2 papers
NM_012117.3
p.G76C
c.226G>T
Surrounding Variants
1 paper
NM_012117.3
p.G76S
c.226G>A
1 paper
NM_012117.3
p.M73L
c.217A>T
1 paper
NM_012117.3
p.M73L
c.217A>C
1 paper
NM_012117.3
p.K72N
c.216G>T
1 paper
NM_012117.3
p.K72N
c.216G>C
1 paper
NM_012117.3
p.P81A
c.241C>G
1 paper
NM_012117.3
p.P81L
c.242C>T
1 paper
NM_012117.3
p.R82K
c.245G>A
1 paper
NM_012117.3
p.E83K
c.247G>A
1 paper
NM_012117.3
p.M67K
c.200T>A
1 paper
NM_012117.3
p.E65A
c.194A>C
1 paper
NM_012117.3
p.E65Q
c.193G>C
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