Varaico: Literature-Extracted Genetic Variants

KAT2A

193 papers

RefSeq Summary

KAT2A, or GCN5, is a histone acetyltransferase (HAT) that functions primarily as a transcriptional activator. It also functions as a repressor of NF-kappa-B (see MIM 164011) by promoting ubiquitinatio...

Pfam Domains

PCAF_Naa 86–336UCSCPCAF (P300/CBP-associated factor) N-terminal domain

Acetyltransf_1aa 518–627UCSCAcetyltransferase (GNAT) family

Bromodomainaa 737–820UCSCBromodomain

Gene Aliases

HGNC Name

lysine acetyltransferase 2A

HGNC Previous Symbol

GCN5L2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021078.3

p.T272A

c.814A>G

Surrounding Variants

1 paper

NM_021078.3

p.R277W

c.829C>T

1 paper

NM_021078.3

p.F238_V239insG

c.712_716ins3

1 paper

NM_021078.3

p.R310ins1

c.929_930insTCT

1 paper

NM_021078.3

p.R310H

c.929G>A

1 paper

NM_021078.3

p.R319Q

c.956G>A

1 paper

NM_021078.3

p.L353V

c.1057C>G

1 paper

NM_021078.3

p.H355Y

c.1063C>T

2 papers

NM_021078.3

p.P224H

c.671C>A

1 paper

NM_021078.3

p.K203_L204Splc

c.610-2A>T

1 paper

NM_021078.3

p.F199L

c.597C>G

1 paper

NM_021078.3

p.F199L

c.597C>A

1 paper

NM_021078.3

p.F199L

c.595T>C