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.M192I

c.576G>A

Surrounding Variants

1 paper

NM_001429.4

p.M192I

c.576G>C

1 paper

NM_001429.4

p.M192I

c.576G>T

1 paper

NM_001429.4

p.N193D

c.577A>G

1 paper

NM_001429.4

p.G194del1

c.580_582delGGT

1 paper

NM_001429.4

p.Q190R

c.569A>G

2 papers

NM_001429.4

p.S195*

c.584C>A

1 paper

NM_001429.4

p.S195*

c.584C>G

1 paper

NM_001429.4

p.Q190*

c.568C>T

1 paper

NM_001429.4

p.Q190insFs

c.568dupC

2 papers

NM_001429.4

p.I196V

c.586A>G

1 paper

NM_001429.4

p.N189_Q190delFs

c.566_569del4

1 paper

NM_001429.4

p.P188L

c.563C>T