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.T477M

c.1430C>T

Surrounding Variants

1 paper

NM_021078.3

p.G505S

c.1513G>A

1 paper

NM_021078.3

p.V516G

c.1547T>G

1 paper

NM_021078.3

p.S528F

c.1583C>T

1 paper

NM_021078.3

p.Q530fs

c.1588_1589fs

1 paper

NM_021078.3

p.R533C

c.1597C>T

1 paper

NM_021078.3

p.R533H

c.1598G>A

1 paper

NM_021078.3

p.P535L

c.1604C>T

1 paper

NM_021078.3

p.K446R

c.1337A>G

1 paper

NM_021078.3

p.Y538C

c.1613A>G

1 paper

NM_021078.3

p.L442P

c.1325T>C

1 paper

NM_021078.3

p.E438E

c.1314G>A

1 paper

NM_021078.3

p.R434G

c.1300A>G