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.T234fs

c.700_701fs

Surrounding Variants

1 paper

NM_001429.4

p.T234_P239delFs

c.701_717del17

1 paper

NM_001429.4

p.T234_P239del6

c.700_716del18

1 paper

NM_001429.4

p.T234insFs

c.700dupA

1 paper

NM_001429.4

p.G235fs

c.703_704fs

1 paper

NM_001429.4

p.G232E

c.695G>A

1 paper

NM_001429.4

p.L236V

c.706T>G

1 paper

NM_001429.4

p.L236S

c.707T>C

1 paper

NM_001429.4

p.L236L

c.708G>A

1 paper

NM_001429.4

p.G231delFs

c.693delA

1 paper

NM_001429.4

p.G231_R237delFs

c.692_711del20

1 paper

NM_001429.4

p.G231_Q233del0

c.691_699del9

1 paper

NM_001429.4

p.R237S

c.711A>T