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.V291M

c.871G>A

Surrounding Variants

1 paper

NM_003884.5

p.V291L

c.871G>C

1 paper

NM_003884.5

p.V291L

c.871G>T

1 paper

NM_003884.5

p.P292delFs

c.874delC

1 paper

NM_003884.5

p.R284S

c.852G>T

1 paper

NM_003884.5

p.E302G

c.905A>G

4 papers

NM_003884.5

p.F307S

c.920T>C

1 paper

NM_003884.5

p.R313C

c.937C>T

1 paper

NM_003884.5

p.L323L

c.969C>T

1 paper

NM_003884.5

p.A327A

c.981A>T

1 paper

NM_003884.5

p.K333E

c.997A>G

1 paper

NM_003884.5

p.L336F

c.1006C>T

1 paper

NM_003884.5

p.K338R

c.1013A>G