Varaico: Literature-Extracted Genetic Variants

Gene:CBX5
Variant:p.L57F

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.L57F
c.171G>C
Surrounding Variants
2 papers
NM_012117.3
p.L57F
c.171G>T
1 paper
NM_012117.3
p.N56S
c.167A>G
1 paper
NM_012117.3
p.N56Y
c.166A>T
1 paper
NM_012117.3
p.K55T
c.164A>C
1 paper
NM_012117.3
p.E61V
c.182A>T
1 paper
NM_012117.3
p.E61D
c.183G>T
1 paper
NM_012117.3
p.E61_L62insFs
c.183_184insT
1 paper
NM_012117.3
p.E61_L62insFs
c.183_184ins22
1 paper
NM_012117.3
p.E61D
c.183G>C
1 paper
NM_012117.3
p.L62fs
c.184_185fs
1 paper
NM_012117.3
p.S64S
c.192T>A
1 paper
NM_012117.3
p.E65Q
c.193G>C
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