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

1 paper

NM_003884.5

p.T460A

c.1378A>G

Surrounding Variants

2 papers

NM_003884.5

p.T462M

c.1385C>T

5 papers

NM_003884.5

p.V457F

c.1369G>T

1 paper

NM_003884.5

p.E438*

c.1312G>T

1 paper

NM_003884.5

p.L437Q

c.1310T>A

1 paper

NM_003884.5

p.E427A

c.1280A>C

1 paper

NM_003884.5

p.G426Splc

c.1277-1G>C

1 paper

NM_003884.5

p.G426Splc

c.1276+2T>C

1 paper

NM_003884.5

p.S402S

c.1206C>A

1 paper

NM_003884.5

p.S401C

c.1202C>G

1 paper

NM_003884.5

p.S400T

c.1198T>A

1 paper

NM_003884.5

p.T399I

c.1196C>T

1 paper

NM_003884.5

p.T393_I394insFs

c.1179_1180insG