Varaico: Literature-Extracted Genetic Variants

Gene:CBX2
Variant:p.P483P

CBX2

107 papers

RefSeq Summary

This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling a...

Pfam Domains

Chromoaa 12–61UCSCChromo (CHRromatin Organisation MOdifier) domain
CBX7_Caa 491–523UCSCCBX family C-terminal motif

Gene Aliases

HGNC Name

chromobox 2

HGNC Previous Symbol

CDCA6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005189.3
p.P483P
c.1449G>A
Surrounding Variants
1 paper
NM_005189.3
p.D472E
c.1416C>A
1 paper
NM_005189.3
p.D472E
c.1416C>G
5 papers
NM_005189.3
p.P471A
c.1411C>G
1 paper
NM_005189.3
p.T496I
c.1487C>T
1 paper
NM_005189.3
p.R497H
c.1490G>A
1 paper
NM_005189.3
p.V505A
c.1514T>C
1 paper
NM_005189.3
p.A452A
c.1356G>A
3 papers
NM_005189.3
p.A452V
c.1355C>T
1 paper
NM_005189.3
p.V515I
c.1543G>A
1 paper
NM_005189.3
p.A449D
c.1346C>A
1 paper
NM_005189.3
p.S520C
c.1559C>G
6 papers
NM_005189.3
p.R443P
c.1328G>C
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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."