Varaico: Literature-Extracted Genetic Variants

Gene:CBX7
Variant:p.R52fs

CBX7

26 papers

RefSeq Summary

This gene encodes a protein that contains the CHROMO (CHRomatin Organization MOdifier) domain. The encoded protein is a component of the Polycomb repressive complex 1 (PRC1), and is thought to control...

Pfam Domains

Chromoaa 11–60UCSCChromo (CHRromatin Organisation MOdifier) domain
CBX7_Caa 116–147UCSCCBX family C-terminal motif

Gene Aliases

HGNC Name

chromobox 7

HGNC Previous Name

chromobox homolog 7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_175709.5
p.R52fs
c.154_155fs
Surrounding Variants
2 papers
NM_175709.5
p.R52delFs
c.154delG
1 paper
NM_175709.5
p.R52fs
c.154_155fs
1 paper
NM_175709.5
p.R159C
c.475C>T
1 paper
NM_175709.5
p.R159G
c.475C>G
1 paper
NM_175709.5
p.R159H
c.476G>A
1 paper
NM_175709.5
p.N162S
c.485A>G
2 papers
NM_175709.5
p.E190G
c.569A>G
1 paper
NM_175709.5
p.A202A
c.606C>T
1 paper
NM_175709.5
p.T223T
c.669C>T
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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."