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.Q1759H

c.5277G>C

Surrounding Variants

1 paper

NM_001429.4

p.Q1759H

c.5277G>T

1 paper

NM_001429.4

p.K1760fs

c.5278_5279fs

1 paper

NM_001429.4

p.K1760R

c.5279A>G

2 papers

NM_001429.4

p.C1758C

c.5274C>T

2 papers

NM_001429.4

p.K1760N

c.5280G>C

2 papers

NM_001429.4

p.K1760N

c.5280G>T

2 papers

NM_001429.4

p.M1761I

c.5283G>A

2 papers

NM_001429.4

p.M1761I

c.5283G>C

2 papers

NM_001429.4

p.M1761I

c.5283G>T

1 paper

NM_001429.4

p.K1762*

c.5284A>T

1 paper

NM_001429.4

p.R1763R

c.5287C>A

2 papers

NM_001429.4

p.R1763W

c.5287C>T