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.Q1997R

c.5990A>G

Surrounding Variants

1 paper

NM_001429.4

p.G1998R

c.5992G>A

1 paper

NM_001429.4

p.G1998R

c.5992G>C

1 paper

NM_001429.4

p.W1995*

c.5985G>A

1 paper

NM_001429.4

p.G1999R

c.5995G>A

1 paper

NM_001429.4

p.W1995C

c.5985G>C

1 paper

NM_001429.4

p.G1999R

c.5995G>C

1 paper

NM_001429.4

p.W1995C

c.5985G>T

1 paper

NM_001429.4

p.W1995*

c.5984G>A

1 paper

NM_001429.4

p.P1994L

c.5981C>T

1 paper

NM_001429.4

p.P1994fs

c.5980_5981fs

2 papers

NM_001429.4

p.P2001S

c.6001C>T

1 paper

NM_001429.4

p.Q2002E

c.6004C>G