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.V158L

c.472G>T

Surrounding Variants

1 paper

NM_001429.4

p.N159D

c.475A>G

1 paper

NM_001429.4

p.P157A

c.469C>G

1 paper

NM_001429.4

p.Q160E

c.478C>G

2 papers

NM_001429.4

p.Q160*

c.478C>T

1 paper

NM_001429.4

p.N155fs

c.463_464fs

1 paper

NM_001429.4

p.N155_S156ins5

c.463_467ins15

1 paper

NM_001429.4

p.P161S

c.481C>T

1 paper

NM_001429.4

p.P161_M163delFs

c.482_488del7

1 paper

NM_001429.4

p.M154I

c.462G>A

1 paper

NM_001429.4

p.M154_N155insFs

c.462_463insT

1 paper

NM_001429.4

p.A162A

c.486C>G

1 paper

NM_001429.4

p.M153V

c.457A>G