Varaico: Literature-Extracted Genetic Variants

Gene:CHAF1A
Variant:p.R567Q

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
Selected Variant
4 papers
NM_005483.3
p.R567Q
c.1700G>A
Surrounding Variants
1 paper
NM_005483.3
p.C563*
c.1689T>A
1 paper
NM_005483.3
p.C563delFs
c.1687_1688delTG
1 paper
NM_005483.3
p.K577E
c.1729A>G
1 paper
NM_005483.3
p.T578M
c.1733C>T
1 paper
NM_005483.3
p.K553E
c.1657A>G
1 paper
NM_005483.3
p.R582C
c.1744C>T
1 paper
NM_005483.3
p.A583T
c.1747G>A
1 paper
NM_005483.3
p.A583V
c.1748C>T
1 paper
NM_005483.3
p.R584*
c.1750C>T
2 papers
NM_005483.3
p.G547S
c.1639G>A
1 paper
NM_005483.3
p.G545G
c.1635C>T
1 paper
NM_005483.3
p.G545fs
c.1633_1634fs
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