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.S150fs

c.448_449fs

Surrounding Variants

1 paper

NM_001429.4

p.S150L

c.449C>T

4 papers

NM_001429.4

p.Q149*

c.445C>T

1 paper

NM_001429.4

p.T151I

c.452C>T

1 paper

NM_001429.4

p.M153V

c.457A>G

1 paper

NM_001429.4

p.P147S

c.439C>T

1 paper

NM_001429.4

p.P147_M153insFs

c.439_457dup19

1 paper

NM_001429.4

p.G146A

c.437G>C

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.M154I

c.462G>A

1 paper

NM_001429.4

p.M154_N155insFs

c.462_463insT

1 paper

NM_001429.4

p.N155fs

c.463_464fs