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.M1V

c.1A>G

Surrounding Variants

1 paper

NM_021078.3

p.P4S

c.10C>T

1 paper

NM_021078.3

p.Q6R

c.17A>G

1 paper

NM_021078.3

p.Q15P

c.44A>C

1 paper

NM_021078.3

p.P16S

c.46C>T

1 paper

NM_021078.3

p.P16A

c.46C>G

1 paper

NM_021078.3

p.R17L

c.50G>T

1 paper

NM_021078.3

p.L19L

c.57T>A

2 papers

NM_021078.3

p.P28A

c.82C>G

1 paper

NM_021078.3

p.A35A

c.105T>A

1 paper

NM_021078.3

p.P38T

c.112C>A

1 paper

NM_021078.3

p.P40T

c.118C>A

1 paper

NM_021078.3

p.T41S

c.121A>T