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

1 paper

NM_001429.4

p.G497insFs

c.1490_1491dupGG

Surrounding Variants

1 paper

NM_001429.4

p.G497Fs

c.1490_1491delinsTFs

1 paper

NM_001429.4

p.Q498K

c.1492C>A

1 paper

NM_001429.4

p.Q498fs

c.1492_1493fs

1 paper

NM_001429.4

p.Q498*

c.1492C>T

1 paper

NM_001429.4

p.Q495*

c.1483C>T

1 paper

NM_001429.4

p.N493I

c.1478A>T

1 paper

NM_001429.4

p.N493delFs

c.1477delA

1 paper

NM_001429.4

p.N493ins2

c.1478_1479ins6

1 paper

NM_001429.4

p.Q501H

c.1503A>C

1 paper

NM_001429.4

p.Q501H

c.1503A>T

1 paper

NM_001429.4

p.N490K

c.1470C>A

1 paper

NM_001429.4

p.N490K

c.1470C>G