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.G213fs

c.637_638fs

Surrounding Variants

1 paper

NM_001429.4

p.G213fs

c.637_638fs

4 papers

NM_001429.4

p.G213delFs

c.638delG

2 papers

NM_001429.4

p.M212V

c.634A>G

1 paper

NM_001429.4

p.S214insFs

c.642dupT

13 papers

NM_001429.4

p.G211S

c.631G>A

1 paper

NM_001429.4

p.A215G

c.644C>G

1 paper

NM_001429.4

p.P210S

c.628C>T

1 paper

NM_001429.4

p.N209T

c.626A>C

1 paper

NM_001429.4

p.G216G

c.648C>T

3 papers

NM_001429.4

p.N217S

c.650A>G

1 paper

NM_001429.4

p.P208L

c.623C>T

1 paper

NM_001429.4

p.Y207Y

c.621C>T