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.H1703Q

c.5109C>A

Surrounding Variants

1 paper

NM_001429.4

p.H1703Q

c.5109C>G

1 paper

NM_001429.4

p.H1703Y

c.5107C>T

1 paper

NM_001429.4

p.K1704N

c.5112A>C

1 paper

NM_001429.4

p.K1704N

c.5112A>T

1 paper

NM_001429.4

p.M1705_E1706delFs

c.5114_5117del4

1 paper

NM_001429.4

p.D1702V

c.5105A>T

3 papers

NM_001429.4

p.N1700fs

c.5098_5099fs

2 papers

NM_001429.4

p.N1700delFs

c.5099delA

1 paper

NM_001429.4

p.T1698N

c.5093C>A

1 paper

NM_001429.4

p.I1693V

c.5077A>G

2 papers

NM_001429.4

p.E1715*

c.5143G>T

1 paper

NM_001429.4

p.C1692R

c.5074T>C