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

1–12 of 186 variants

6 papers

NM_003884.5

p.N386S

c.1157A>G

6 papers

NM_003884.5

p.P713T

c.2137C>A

5 papers

NM_003884.5

p.V457F

c.1369G>T

5 papers

NM_003884.5

p.R653W

c.1957C>T

4 papers

NM_003884.5

p.F307S

c.920T>C

3 papers

NM_003884.5

p.V384Splc

c.1151-1G>A

3 papers

NM_003884.5

p.R553C

c.1657C>T

3 papers

NM_003884.5

p.T657K

c.1970C>A

2 papers

NM_003884.5

p.M1V

c.1A>G

2 papers

NM_003884.5

p.P36P

c.108C>A

2 papers

NM_003884.5

p.A46V

c.137C>T

2 papers

NM_003884.5

p.T63T

c.189G>A