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.R2012S

c.6036G>T

Surrounding Variants

1 paper

NM_001429.4

p.R2012S

c.6036G>C

1 paper

NM_001429.4

p.R2012K

c.6035G>A

1 paper

NM_001429.4

p.P2011L

c.6032C>T

1 paper

NM_001429.4

p.P2011S

c.6031C>T

1 paper

NM_001429.4

p.M2015delFs

c.6043delA

1 paper

NM_001429.4

p.M2010I

c.6030G>A

1 paper

NM_001429.4

p.M2010I

c.6030G>C

1 paper

NM_001429.4

p.M2010_P2011insFs

c.6030_6031insCC

1 paper

NM_001429.4

p.M2010I

c.6030G>T

1 paper

NM_001429.4

p.M2010fs

c.6028_6029fs

1 paper

NM_001429.4

p.M2010V

c.6028A>G

1 paper

NM_001429.4

p.S2008F

c.6023C>T