Varaico: Literature-Extracted Genetic Variants

Gene:CHAF1A
Variant:p.D23E

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
1 paper
NM_005483.3
p.D23E
c.69T>G
Surrounding Variants
1 paper
NM_005483.3
p.D23E
c.69T>A
2 papers
NM_005483.3
p.R24K
c.71G>A
1 paper
NM_005483.3
p.M19T
c.56T>C
1 paper
NM_005483.3
p.R36C
c.106C>T
1 paper
NM_005483.3
p.D56G
c.167A>G
1 paper
NM_005483.3
p.L72_D73insFs
c.216_217insA
1 paper
NM_005483.3
p.E76V
c.227A>T
1 paper
NM_005483.3
p.A18Splc
c.52+2T>G
1 paper
NM_005483.3
p.G82insFs
c.245_246insA
1 paper
NM_005483.3
p.K95N
c.285G>C
1 paper
NM_005483.3
p.E4*
c.10G>T
1 paper
NM_005483.3
p.K95N
c.285G>T
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