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

4 papers

NM_001429.4

p.S952*

c.2855C>A

Surrounding Variants

4 papers

NM_001429.4

p.S952*

c.2855C>G

1 paper

NM_001429.4

p.S952L

c.2855C>T

1 paper

NM_001429.4

p.N953D

c.2857A>G

1 paper

NM_001429.4

p.V951L

c.2851G>C

1 paper

NM_001429.4

p.V951L

c.2851G>T

2 papers

NM_001429.4

p.P955S

c.2863C>T

2 papers

NM_001429.4

p.P955Q

c.2864C>A

1 paper

NM_001429.4

p.G949E

c.2846G>A

1 paper

NM_001429.4

p.E948K

c.2842G>A

1 paper

NM_001429.4

p.E948*

c.2842G>T

1 paper

NM_001429.4

p.T957S

c.2869A>T

1 paper

NM_001429.4

p.T957S

c.2870C>G