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.L47F

c.141A>C

Surrounding Variants

1 paper

NM_001429.4

p.L47F

c.141A>T

2 papers

NM_001429.4

p.N49S

c.146A>G

2 papers

NM_001429.4

p.N49I

c.146A>T

2 papers

NM_001429.4

p.E46K

c.136G>A

1 paper

NM_001429.4

p.T51A

c.151A>G

1 paper

NM_001429.4

p.P44_D45insGC

c.130_134ins6

1 paper

NM_001429.4

p.P44S

c.130C>T

1 paper

NM_001429.4

p.L43F

c.129A>C

1 paper

NM_001429.4

p.L43F

c.129A>T

1 paper

NM_001429.4

p.E52Q

c.154G>C

1 paper

NM_001429.4

p.E52insFs

c.155_156ins5

1 paper

NM_001429.4

p.E52A

c.155A>C