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.H1451D

c.4351C>G

Surrounding Variants

2 papers

NM_001429.4

p.H1451N

c.4351C>A

4 papers

NM_001429.4

p.H1451Y

c.4351C>T

2 papers

NM_001429.4

p.H1451P

c.4352A>C

2 papers

NM_001429.4

p.H1451R

c.4352A>G

5 papers

NM_001429.4

p.H1451L

c.4352A>T

1 paper

NM_001429.4

p.P1452_P1453del0

c.4354_4359del6

1 paper

NM_001429.4

p.C1450Y

c.4349G>A

3 papers

NM_001429.4

p.H1451Q

c.4353T>A

3 papers

NM_001429.4

p.H1451Q

c.4353T>G

1 paper

NM_001429.4

p.P1452H

c.4355C>A

5 papers

NM_001429.4

p.P1452R

c.4355C>G

16 papers

NM_001429.4

p.P1452L

c.4355C>T