Varaico: Literature-Extracted Genetic Variants

Gene:KAT2B
Variant:p.A43_A46delFs

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.A43_A46delFs
c.128_138del11
Surrounding Variants
1 paper
NM_003884.5
p.P41T
c.121C>A
2 papers
NM_003884.5
p.A46V
c.137C>T
1 paper
NM_003884.5
p.G47E
c.140G>A
1 paper
NM_003884.5
p.Q38K
c.112C>A
2 papers
NM_003884.5
p.P36P
c.108C>A
1 paper
NM_003884.5
p.A35T
c.103G>A
1 paper
NM_003884.5
p.A35S
c.103G>T
1 paper
NM_003884.5
p.G53G
c.159T>C
1 paper
NM_003884.5
p.T56M
c.167C>T
1 paper
NM_003884.5
p.P27R
c.80C>G
1 paper
NM_003884.5
p.L25L
c.75G>A
1 paper
NM_003884.5
p.A61V
c.182C>T
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