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.K759R

c.2276A>G

Surrounding Variants

2 papers

NM_021078.3

p.S760L

c.2279C>T

1 paper

NM_021078.3

p.V768F

c.2302G>T

1 paper

NM_021078.3

p.A742T

c.2224G>A

1 paper

NM_021078.3

p.D731N

c.2191G>A

1 paper

NM_021078.3

p.K728R

c.2183A>G

1 paper

NM_021078.3

p.R785C

c.2353C>T

1 paper

NM_021078.3

p.Y786C

c.2357A>G

1 paper

NM_021078.3

p.A795V

c.2384C>T

1 paper

NM_021078.3

p.D796N

c.2386G>A

1 paper

NM_021078.3

p.N808fs

c.2422_2423fs

1 paper

NM_021078.3

p.P809fs

c.2425_2426fs

1 paper

NM_021078.3

p.P810delFs

c.2429delG