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.N1799insFs

c.5396_5397ins8

Surrounding Variants

1 paper

NM_001429.4

p.N1799insFs

c.5396_5397ins10

1 paper

NM_001429.4

p.N1799T

c.5396A>C

1 paper

NM_001429.4

p.N1799fs

c.5395_5396fs

1 paper

NM_001429.4

p.N1799fs

c.5395_5396fs

1 paper

NM_001429.4

p.K1800*

c.5398A>T

1 paper

NM_001429.4

p.E1798G

c.5393A>G

1 paper

NM_001429.4

p.E1798K

c.5392G>A

1 paper

NM_001429.4

p.E1798Q

c.5392G>C

2 papers

NM_001429.4

p.E1798*

c.5392G>T

1 paper

NM_001429.4

p.C1801S

c.5401T>A

1 paper

NM_001429.4

p.C1801insFs

c.5401_5402insC

1 paper

NM_001429.4

p.C1801fs

c.5401_5402fs