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

2 papers

NM_001429.4

p.G1839D

c.5516G>A

Surrounding Variants

1 paper

NM_001429.4

p.V1840A

c.5519T>C

1 paper

NM_001429.4

p.V1840V

c.5520G>C

2 papers

NM_001429.4

p.R1837Q

c.5510G>A

1 paper

NM_001429.4

p.R1837W

c.5509C>T

3 papers

NM_001429.4

p.Q1836*

c.5506C>T

1 paper

NM_001429.4

p.Q1843insFs

c.5527dupC

1 paper

NM_001429.4

p.Q1843fs

c.5527_5528fs

1 paper

NM_001429.4

p.Q1843P

c.5528A>C

1 paper

NM_001429.4

p.Q1844*

c.5530C>T

1 paper

NM_001429.4

p.Q1844Q

c.5532A>G

1 paper

NM_001429.4

p.A1833A

c.5499C>A

1 paper

NM_001429.4

p.A1833D

c.5498C>A