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

4 papers

NM_001429.4

p.M1928I

c.5784G>T

Surrounding Variants

4 papers

NM_001429.4

p.M1928I

c.5784G>A

4 papers

NM_001429.4

p.M1928I

c.5784G>C

1 paper

NM_001429.4

p.M1928insFs

c.5783dupT

1 paper

NM_001429.4

p.M1928fs

c.5782_5783fs

1 paper

NM_001429.4

p.M1930V

c.5788A>G

1 paper

NM_001429.4

p.E1927K

c.5779G>A

2 papers

NM_001429.4

p.Q1931*

c.5791C>T

1 paper

NM_001429.4

p.Q1931H

c.5793G>C

1 paper

NM_001429.4

p.Q1931H

c.5793G>T

1 paper

NM_001429.4

p.I1932insFs

c.5794_5795insC

1 paper

NM_001429.4

p.Q1933_A1936delFs

c.5798_5807del10

1 paper

NM_001429.4

p.Q1933fs

c.5797_5798fs