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.N2379S

c.7136A>G

Surrounding Variants

1 paper

NM_001429.4

p.P2380A

c.7138C>G

2 papers

NM_001429.4

p.P2380L

c.7139C>T

1 paper

NM_001429.4

p.G2381A

c.7142G>C

1 paper

NM_001429.4

p.M2382V

c.7144A>G

1 paper

NM_001429.4

p.Q2375R

c.7124A>G

2 papers

NM_001429.4

p.S2374F

c.7121C>T

6 papers

NM_001429.4

p.M2372V

c.7114A>G

1 paper

NM_001429.4

p.G2387_A2388delFs

c.7160_7164del5

1 paper

NM_001429.4

p.S2371*

c.7112C>A

1 paper

NM_001429.4

p.S2371*

c.7112C>G

1 paper

NM_001429.4

p.G2387D

c.7160G>A

1 paper

NM_001429.4

p.S2371T

c.7111T>A