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.R171G

c.511C>G

Surrounding Variants

1 paper

NM_021078.3

p.R171Q

c.512G>A

1 paper

NM_021078.3

p.D167D

c.501T>C

1 paper

NM_021078.3

p.V177E

c.530T>A

1 paper

NM_021078.3

p.N181K

c.543T>A

1 paper

NM_021078.3

p.S159A

c.475T>G

1 paper

NM_021078.3

p.F199L

c.595T>C

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.K203_L204Splc

c.610-2A>T

2 papers

NM_021078.3

p.P224H

c.671C>A

1 paper

NM_021078.3

p.M134V

c.400A>G

2 papers

NM_021078.3

p.P132del1

c.394_396delGGG