Varaico: Literature-Extracted Genetic Variants

Gene:KAT2B
Variant:p.K692R

KAT2B

340 papers

RefSeq Summary

CBP and p300 are large nuclear proteins that bind to many sequence-specific factors involved in cell growth and/or differentiation, including c-jun and the adenoviral oncoprotein E1A. The protein enco...

Pfam Domains

PCAF_Naa 74–326UCSCPCAF (P300/CBP-associated factor) N-terminal domain
Acetyltransf_1aa 512–622UCSCAcetyltransferase (GNAT) family
Bromodomainaa 732–815UCSCBromodomain

Gene Aliases

HGNC Name

lysine acetyltransferase 2B

HGNC Previous Symbol

PCAF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003884.5
p.K692R
c.2075A>G
Surrounding Variants
1 paper
NM_003884.5
p.S689T
c.2065T>A
1 paper
NM_003884.5
p.R696*
c.2086C>T
1 paper
NM_003884.5
p.R682Q
c.2045G>A
1 paper
NM_003884.5
p.T709P
c.2125A>C
1 paper
NM_003884.5
p.K712Q
c.2134A>C
6 papers
NM_003884.5
p.P713T
c.2137C>A
1 paper
NM_003884.5
p.K720R
c.2159A>G
1 paper
NM_003884.5
p.K740_S741Splc
c.2220+1G>A
1 paper
NM_003884.5
p.A745T
c.2233G>A
2 papers
NM_003884.5
p.M749I
c.2247G>A
2 papers
NM_003884.5
p.M749I
c.2247G>C
2 papers
NM_003884.5
p.M749I
c.2247G>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."