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.P143L

c.428C>T

Surrounding Variants

1 paper

NM_001429.4

p.P143R

c.428C>G

1 paper

NM_001429.4

p.N144fs

c.430_431fs

1 paper

NM_001429.4

p.N144_Q145delFs

c.432_435del4

1 paper

NM_001429.4

p.G142V

c.425G>T

2 papers

NM_001429.4

p.Q145*

c.433C>T

1 paper

NM_001429.4

p.S141fs

c.421_422fs

1 paper

NM_001429.4

p.Q145H

c.435G>C

1 paper

NM_001429.4

p.Q145H

c.435G>T

1 paper

NM_001429.4

p.T140I

c.419C>T

1 paper

NM_001429.4

p.G146A

c.437G>C

1 paper

NM_001429.4

p.P147_M153insFs

c.439_457dup19

1 paper

NM_001429.4

p.S141insFs

c.421_422ins7