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.Q1811H

c.5433G>T

Surrounding Variants

1 paper

NM_001429.4

p.Q1811H

c.5433G>C

1 paper

NM_001429.4

p.K1812E

c.5434A>G

1 paper

NM_001429.4

p.K1812T

c.5435A>C

1 paper

NM_001429.4

p.Q1817*

c.5449C>T

1 paper

NM_001429.4

p.C1806fs

c.5416_5417fs

1 paper

NM_001429.4

p.C1806insFs

c.5416_5417insTG

1 paper

NM_001429.4

p.C1806fs

c.5416_5417fs

1 paper

NM_001429.4

p.C1806insFs

c.5416_5417ins10

1 paper

NM_001429.4

p.L1818L

c.5452C>T

1 paper

NM_001429.4

p.F1805ins2

c.5414_5415ins6

2 papers

NM_001429.4

p.P1804Q

c.5411C>A

2 papers

NM_001429.4

p.P1804L

c.5411C>T