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.P866H

c.2597C>A

Surrounding Variants

1 paper

NM_001429.4

p.T865_P866insFs

c.2595_2596insGG

1 paper

NM_001429.4

p.T865fs

c.2593_2594fs

1 paper

NM_001429.4

p.A868V

c.2603C>T

1 paper

NM_001429.4

p.M869_P870insT

c.2605_2609ins3

1 paper

NM_001429.4

p.M869I

c.2607G>A

1 paper

NM_001429.4

p.M869I

c.2607G>C

1 paper

NM_001429.4

p.M869I

c.2607G>T

1 paper

NM_001429.4

p.P870L

c.2609C>T

1 paper

NM_001429.4

p.P871L

c.2612C>T

3 papers

NM_001429.4

p.I859T

c.2576T>C

2 papers

NM_001429.4

p.Q874*

c.2620C>T

1 paper

NM_001429.4

p.T858A

c.2572A>G