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.P63T

c.187C>A

Surrounding Variants

1 paper

NM_021078.3

p.T58I

c.173C>T

1 paper

NM_021078.3

p.G68R

c.202G>C

1 paper

NM_021078.3

p.G68R

c.202G>A

1 paper

NM_021078.3

p.P76T

c.226C>A

1 paper

NM_021078.3

p.A77S

c.229G>T

1 paper

NM_021078.3

p.P46L

c.137C>T

1 paper

NM_021078.3

p.G80D

c.239G>A

1 paper

NM_021078.3

p.G80insFs

c.238_239insG

1 paper

NM_021078.3

p.T43delFs

c.128delG

1 paper

NM_021078.3

p.T41S

c.121A>T

1 paper

NM_021078.3

p.T41A

c.121A>G

1 paper

NM_021078.3

p.P40T

c.118C>A