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.M1832V

c.5494A>G

Surrounding Variants

2 papers

NM_001429.4

p.R1831S

c.5493G>C

2 papers

NM_001429.4

p.R1831S

c.5493G>T

1 paper

NM_001429.4

p.M1832delins

c.5495delinsTGGC

1 paper

NM_001429.4

p.R1831T

c.5492G>C

2 papers

NM_001429.4

p.R1831_M1832delins

c.5492_5495delinsTGGC

1 paper

NM_001429.4

p.R1831_M1832delFs

c.5492_5495del4

1 paper

NM_001429.4

p.A1833T

c.5497G>A

1 paper

NM_001429.4

p.A1833D

c.5498C>A

1 paper

NM_001429.4

p.A1833A

c.5499C>A

6 papers

NM_001429.4

p.R1831_M1832del1

c.5492_5494delGGA

2 papers

NM_001429.4

p.R1829H

c.5486G>A

5 papers

NM_001429.4

p.R1829P

c.5486G>C