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

3 papers

NM_001429.4

p.A1606V

c.4817C>T

Surrounding Variants

1 paper

NM_001429.4

p.A1605T

c.4813G>A

1 paper

NM_001429.4

p.A1605fs

c.4813_4814fs

1 paper

NM_001429.4

p.S1608C

c.4823C>G

2 papers

NM_001429.4

p.P1610S

c.4828C>T

1 paper

NM_001429.4

p.I1612V

c.4834A>G

1 paper

NM_001429.4

p.L1600V

c.4798C>G

1 paper

NM_001429.4

p.L1600F

c.4798C>T

2 papers

NM_001429.4

p.R1599H

c.4796G>A

1 paper

NM_001429.4

p.R1599fs

c.4795_4796fs

2 papers

NM_001429.4

p.R1599C

c.4795C>T

1 paper

NM_001429.4

p.P1615fs

c.4843_4844fs

1 paper

NM_001429.4

p.P1615S

c.4843C>T