Varaico: Literature-Extracted Genetic Variants

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

2 papers

NM_003884.5

p.M1V

c.1A>G

Surrounding Variants

1 paper

NM_003884.5

p.M1insFs

c.2dupT

1 paper

NM_003884.5

p.S2S

c.6C>A

1 paper

NM_003884.5

p.A4A

c.12T>A

1 paper

NM_003884.5

p.A7_G8insFs

c.21_22insTT

1 paper

NM_003884.5

p.G8A

c.23G>C

1 paper

NM_003884.5

p.G13R

c.37G>A

1 paper

NM_003884.5

p.G13R

c.37G>C

1 paper

NM_003884.5

p.A16G

c.47C>G

1 paper

NM_003884.5

p.G17R

c.49G>A

1 paper

NM_003884.5

p.G17R

c.49G>C

1 paper

NM_003884.5

p.A18V

c.53C>T

1 paper

NM_003884.5

p.P22insFs

c.64_65insT