Varaico: Literature-Extracted Genetic Variants

EP300

2,148 papers

RefSeq Summary

This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and ...

Pfam Domains

zf-TAZaa 338–414UCSCTAZ zinc finger

KIXaa 566–646UCSCKIX domain

Bromodomainaa 1032–1118UCSCBromodomain

RING_CBP-p300aa 1130–1169UCSCCREB-binding protein/p300, atypical RING domain

PHD_P300aa 1214–1252UCSCHistone acetyltransferase p300-like, PHD domain

HAT_KAT11aa 1280–1587UCSCHistone acetylation protein

Gene Aliases

HGNC Name

EP300 lysine acetyltransferase

HGNC Alias Symbols

p300; KAT3B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001429.4

p.S457_Q458delFs

c.1371_1374del4

Surrounding Variants

1 paper

NM_001429.4

p.S457fs

c.1369_1370fs

1 paper

NM_001429.4

p.S457fs

c.1369_1370fs

3 papers

NM_001429.4

p.V456I

c.1366G>A

1 paper

NM_001429.4

p.S457I

c.1370G>T

1 paper

NM_001429.4

p.V456fs

c.1366_1367fs

1 paper

NM_001429.4

p.Q458*

c.1372C>T

1 paper

NM_001429.4

p.T455delFs

c.1365delT

1 paper

NM_001429.4

p.Q458R

c.1373A>G

1 paper

NM_001429.4

p.S454N

c.1361G>A

1 paper

NM_001429.4

p.N452_L453insFs

c.1356_1357ins4

2 papers

NM_001429.4

p.N452S

c.1355A>G

1 paper

NM_001429.4

p.S462_S463insT

c.1384_1388ins3