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.D2368G

c.7103A>G

Surrounding Variants

1 paper

NM_001429.4

p.D2368N

c.7102G>A

1 paper

NM_001429.4

p.P2367P

c.7101G>A

1 paper

NM_001429.4

p.P2367L

c.7100C>T

2 papers

NM_001429.4

p.P2367fs

c.7099_7100fs

6 papers

NM_001429.4

p.P2367delFs

c.7100delC

1 paper

NM_001429.4

p.S2371T

c.7111T>A

1 paper

NM_001429.4

p.S2371*

c.7112C>A

1 paper

NM_001429.4

p.S2371*

c.7112C>G

1 paper

NM_001429.4

p.A2365V

c.7094C>T

6 papers

NM_001429.4

p.M2372V

c.7114A>G

1 paper

NM_001429.4

p.H2363_F2364insGTT

c.7087_7091ins9

2 papers

NM_001429.4

p.S2374F

c.7121C>T