Varaico: Literature-Extracted Genetic Variants

Gene:CBX5
Variant:p.L62fs

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.L62fs
c.184_185fs
Surrounding Variants
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.E61V
c.182A>T
1 paper
NM_012117.3
p.S64S
c.192T>A
1 paper
NM_012117.3
p.E65Q
c.193G>C
1 paper
NM_012117.3
p.E65A
c.194A>C
1 paper
NM_012117.3
p.M67K
c.200T>A
2 papers
NM_012117.3
p.L57F
c.171G>T
2 papers
NM_012117.3
p.L57F
c.171G>C
1 paper
NM_012117.3
p.N56S
c.167A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."