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.K423_R424delFs

c.1267_1271del5

Surrounding Variants

1 paper

NM_001429.4

p.K423fs

c.1267_1268fs

1 paper

NM_001429.4

p.K423E

c.1267A>G

1 paper

NM_001429.4

p.D422N

c.1264G>A

2 papers

NM_001429.4

p.R424*

c.1270A>T

1 paper

NM_001429.4

p.R424fs

c.1270_1271fs

1 paper

NM_001429.4

p.G421_D422ins7

c.1261_1265ins21

1 paper

NM_001429.4

p.R424I

c.1271G>T

1 paper

NM_001429.4

p.A420delFs

c.1260delT

1 paper

NM_001429.4

p.N425T

c.1274A>C

1 paper

NM_001429.4

p.N419I

c.1256A>T

1 paper

NM_001429.4

p.Q426K

c.1276C>A

1 paper

NM_001429.4

p.N419fs

c.1255_1256fs