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.G98G

c.294T>C

Surrounding Variants

1 paper

NM_001429.4

p.G99_V103del0

c.296_307del12

1 paper

NM_001429.4

p.G99S

c.295G>A

1 paper

NM_001429.4

p.G98A

c.293G>C

1 paper

NM_001429.4

p.G99_P100insFs

c.297_298insT

1 paper

NM_001429.4

p.P100fs

c.298_299fs

1 paper

NM_001429.4

p.G96_V97insFs

c.288_289insC

1 paper

NM_001429.4

p.G101delFs

c.302delG

1 paper

NM_001429.4

p.G101S

c.301G>A

1 paper

NM_001429.4

p.G101fs

c.301_302fs

1 paper

NM_001429.4

p.G101D

c.302G>A

1 paper

NM_001429.4

p.G96*

c.286G>T

2 papers

NM_001429.4

p.Q102_A105del4

c.304_314del12