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

28 papers

NM_001429.4

p.R1627W

c.4879C>T

Surrounding Variants

2 papers

NM_001429.4

p.R1627G

c.4879C>G

1 paper

NM_001429.4

p.R1627fs

c.4879_4880fs

6 papers

NM_001429.4

p.R1627Q

c.4880G>A

1 paper

NM_001429.4

p.R1627insFs

c.4879dupC

1 paper

NM_001429.4

p.G1626A

c.4877G>C

1 paper

NM_001429.4

p.D1628H

c.4882G>C

1 paper

NM_001429.4

p.D1625V

c.4874A>T

14 papers

NM_001429.4

p.A1629V

c.4886C>T

1 paper

NM_001429.4

p.L1623V

c.4867C>G

1 paper

NM_001429.4

p.L1631F

c.4891C>T

1 paper

NM_001429.4

p.L1631fs

c.4891_4892fs

1 paper

NM_001429.4

p.C1621*

c.4863C>A