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.C411F

c.1232G>T

Surrounding Variants

1 paper

NM_001429.4

p.P412S

c.1234C>T

1 paper

NM_001429.4

p.H409P

c.1226A>C

1 paper

NM_001429.4

p.R408_H409del2

c.1222_1226del6

1 paper

NM_001429.4

p.T407I

c.1220C>T

17 papers

NM_001429.4

p.L415P

c.1244T>C

1 paper

NM_001429.4

p.L417delFs

c.1249delC

1 paper

NM_001429.4

p.C406*

c.1218T>A

1 paper

NM_001429.4

p.L417insFs

c.1249_1250insA

1 paper

NM_001429.4

p.N405D

c.1213A>G

2 papers

NM_001429.4

p.N419delFs

c.1256delA

1 paper

NM_001429.4

p.K418Q

c.1252A>C

1 paper

NM_001429.4

p.K404fs

c.1210_1211fs