Varaico: Literature-Extracted Genetic Variants

Gene:CHAF1A

CHAF1A

161 papers

RefSeq Summary

Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman e...

Pfam Domains

CAF1-p150_Naa 1–226UCSCCAF1 complex subunit p150, region binding to PCNA
CAF1A_acidicaa 326–478UCSCChromatin assembly factor 1 complex p150 subunit, acidic region
CAF1A_dimerizaa 558–632UCSCChromatin assembly factor 1 subunit A dimerization domain
CAF1-p150_C2aa 665–954UCSCCAF1 complex subunit p150, region binding to CAF1-p60 at C-term

Gene Aliases

HGNC Name

chromatin assembly factor 1 subunit A

HGNC Alias Symbols

CAF1P150; CAF1B; CAF-1; CAF1; P150; MGC71229

Papers
RefSeq ID
Protein change
DNA change
1–12 of 193 variants
7 papers
NM_005483.3
p.A923V
c.2768C>T
4 papers
NM_005483.3
p.R567Q
c.1700G>A
2 papers
NM_005483.3
p.M1fs
c.1_2fs
2 papers
NM_005483.3
p.R24K
c.71G>A
2 papers
NM_005483.3
p.S203L
c.608C>T
2 papers
NM_005483.3
p.E385A
c.1154A>C
2 papers
NM_005483.3
p.G547S
c.1639G>A
2 papers
NM_005483.3
p.S726F
c.2177C>T
2 papers
NM_005483.3
p.A950S
c.2848G>T
1 paper
NM_005483.3
p.M1K
c.2T>A
1 paper
NM_005483.3
p.E4*
c.10G>T
1 paper
NM_005483.3
p.A18Splc
c.52+2T>G
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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."