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

1–12 of 3091 variants

83 papers

NM_001429.4

p.D1399N

c.4195G>A

55 papers

NM_001429.4

p.D1399Y

c.4195G>T

32 papers

NM_001429.4

p.I997V

c.2989A>G

30 papers

NM_001429.4

p.Y1414C

c.4241A>G

28 papers

NM_001429.4

p.R1627W

c.4879C>T

26 papers

NM_001429.4

p.P925T

c.2773C>A

22 papers

NM_001429.4

p.Y1467N

c.4399T>A

22 papers

NM_001429.4

p.Y1467H

c.4399T>C

21 papers

NM_001429.4

p.T1224Splc

c.3671+1G>A

19 papers

NM_001429.4

p.Q2223P

c.6668A>C

18 papers

NM_001429.4

p.S507G

c.1519A>G

17 papers

NM_001429.4

p.L415P

c.1244T>C