Varaico: Literature-Extracted Genetic Variants

Gene:CBX5
Variant:p.W41*

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.W41*
c.122G>A
Surrounding Variants
1 paper
NM_012117.3
p.W41*
c.123G>A
1 paper
NM_012117.3
p.K40T
c.119A>C
1 paper
NM_012117.3
p.K40Q
c.118A>C
1 paper
NM_012117.3
p.S45T
c.133T>A
1 paper
NM_012117.3
p.E36K
c.106G>A
1 paper
NM_012117.3
p.G33G
c.99A>T
1 paper
NM_012117.3
p.V30M
c.88G>A
1 paper
NM_012117.3
p.R29H
c.86G>A
1 paper
NM_012117.3
p.R29C
c.85C>T
1 paper
NM_012117.3
p.R28S
c.84G>T
1 paper
NM_012117.3
p.R28S
c.84G>C
1 paper
NM_012117.3
p.R28M
c.83G>T
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