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

3 papers

NM_001429.4

p.R397*

c.1189C>T

Surrounding Variants

4 papers

NM_001429.4

p.R397Q

c.1190G>A

1 paper

NM_001429.4

p.R397R

c.1191A>G

2 papers

NM_001429.4

p.S396_R397delins

c.1187_1189delinsATT

1 paper

NM_001429.4

p.S395F

c.1184C>T

1 paper

NM_001429.4

p.A394A

c.1182A>C

1 paper

NM_001429.4

p.A394fs

c.1180_1181fs

1 paper

NM_001429.4

p.I400M

c.1200T>G

1 paper

NM_001429.4

p.C393_A394delFs

c.1179_1180delTG

1 paper

NM_001429.4

p.H402D

c.1204C>G

1 paper

NM_001429.4

p.H392del1

c.1174_1176delCAC

1 paper

NM_001429.4

p.A391V

c.1172C>T

1 paper

NM_001429.4

p.A391T

c.1171G>A