Varaico: Literature-Extracted Genetic Variants

Gene:CBX5
Variant:p.N88S

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.N88S
c.263A>G
Surrounding Variants
1 paper
NM_012117.3
p.K89E
c.265A>G
2 papers
NM_012117.3
p.K91E
c.271A>G
1 paper
NM_012117.3
p.K91K
c.273A>G
3 papers
NM_012117.3
p.S92A
c.274T>G
1 paper
NM_012117.3
p.S92Y
c.275C>A
1 paper
NM_012117.3
p.N93S
c.278A>G
1 paper
NM_012117.3
p.E83K
c.247G>A
2 papers
NM_012117.3
p.F94L
c.280T>C
1 paper
NM_012117.3
p.R82K
c.245G>A
2 papers
NM_012117.3
p.F94L
c.282C>G
2 papers
NM_012117.3
p.F94L
c.282C>A
2 papers
NM_012117.3
p.S95A
c.283T>G
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