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.C1790R

c.5368T>C

Surrounding Variants

1 paper

NM_001429.4

p.C1790G

c.5368T>G

2 papers

NM_001429.4

p.Y1791*

c.5373C>A

1 paper

NM_001429.4

p.Y1791*

c.5373C>G

1 paper

NM_001429.4

p.L1788P

c.5363T>C

1 paper

NM_001429.4

p.L1788F

c.5362C>T

1 paper

NM_001429.4

p.H1792P

c.5375A>C

2 papers

NM_001429.4

p.A1787S

c.5359G>T

1 paper

NM_001429.4

p.K1794Q

c.5380A>C

3 papers

NM_001429.4

p.I1786V

c.5356A>G

1 paper

NM_001429.4

p.K1794E

c.5380A>G

1 paper

NM_001429.4

p.K1794N

c.5382G>C

1 paper

NM_001429.4

p.K1794_H1795insFs

c.5382_5383insC