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.R1197Splc

c.3591-1G>A

Surrounding Variants

1 paper

NM_001429.4

p.R1197Splc

c.3591-2A>G

1 paper

NM_001429.4

p.H1199Y

c.3595C>T

1 paper

NM_001429.4

p.C1201R

c.3601T>C

9 papers

NM_001429.4

p.C1201Y

c.3602G>A

2 papers

NM_001429.4

p.C1201F

c.3602G>T

1 paper

NM_001429.4

p.C1201W

c.3603T>G

3 papers

NM_001429.4

p.E1202*

c.3604G>T

6 papers

NM_001429.4

p.C1204R

c.3610T>C

1 paper

NM_001429.4

p.C1204G

c.3610T>G

1 paper

NM_001429.4

p.C1204Y

c.3611G>A

1 paper

NM_001429.4

p.F1205L

c.3613T>C

1 paper

NM_001429.4

p.F1205L

c.3615C>A