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.R1478_I1479ins6

c.4432_4436ins18

Surrounding Variants

2 papers

NM_001429.4

p.R1478C

c.4432C>T

2 papers

NM_001429.4

p.R1478H

c.4433G>A

1 paper

NM_001429.4

p.V1475L

c.4423G>C

1 paper

NM_001429.4

p.V1475L

c.4423G>T

1 paper

NM_001429.4

p.D1482A

c.4445A>C

1 paper

NM_001429.4

p.D1482G

c.4445A>G

1 paper

NM_001429.4

p.Y1483D

c.4447T>G

2 papers

NM_001429.4

p.Y1483C

c.4448A>G

1 paper

NM_001429.4

p.Y1483*

c.4449C>A

1 paper

NM_001429.4

p.Y1483*

c.4449C>G

3 papers

NM_001429.4

p.K1484*

c.4450A>T

2 papers

NM_001429.4

p.D1472H

c.4414G>C