Varaico: Literature-Extracted Genetic Variants

Gene:CHAF1A
Variant:p.E421K

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.E421K
c.1261G>A
Surrounding Variants
1 paper
NM_005483.3
p.E421G
c.1262A>G
1 paper
NM_005483.3
p.E428G
c.1283A>G
1 paper
NM_005483.3
p.R430W
c.1288C>T
1 paper
NM_005483.3
p.R430Q
c.1289G>A
1 paper
NM_005483.3
p.I438T
c.1313T>C
1 paper
NM_005483.3
p.P455R
c.1364C>G
1 paper
NM_005483.3
p.K459_T460Splc
c.1377+1G>A
1 paper
NM_005483.3
p.R407L
c.1220G>T
1 paper
NM_005483.3
p.A398A
c.1194G>A
1 paper
NM_005483.3
p.K392K
c.1176G>A
1 paper
NM_005483.3
p.R390insFs
c.1168_1169insC
1 paper
NM_005483.3
p.R387W
c.1159C>T
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