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.R681C

c.2041C>T

Surrounding Variants

1 paper

NM_021078.3

p.R681G

c.2041C>G

1 paper

NM_021078.3

p.R681L

c.2042G>T

1 paper

NM_021078.3

p.L678_Q685del0

c.2032_2055del24

1 paper

NM_021078.3

p.V689G

c.2066T>G

1 paper

NM_021078.3

p.K697R

c.2090A>G

1 paper

NM_021078.3

p.P704S

c.2110C>T

1 paper

NM_021078.3

p.R712*

c.2134C>T

1 paper

NM_021078.3

p.R712*

c.2134C>T

1 paper

NM_021078.3

p.K721R

c.2162A>G

1 paper

NM_021078.3

p.E673_I674Splc

c.2019+2T>C

1 paper

NM_021078.3

p.K728R

c.2183A>G

1 paper

NM_021078.3

p.D731N

c.2191G>A