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.E1211Q

c.3631G>C

Surrounding Variants

1 paper

NM_001429.4

p.Q1209_S1212delFs

c.3627_3636del10

1 paper

NM_001429.4

p.Q1209fs

c.3625_3626fs

1 paper

NM_001429.4

p.V1213I

c.3637G>A

1 paper

NM_001429.4

p.I1208M

c.3624C>G

2 papers

NM_001429.4

p.Q1209delFs

c.3625delC

1 paper

NM_001429.4

p.E1207E

c.3621G>A

1 paper

NM_001429.4

p.E1207Q

c.3619G>C

1 paper

NM_001429.4

p.E1207*

c.3619G>T

5 papers

NM_001429.4

p.N1206K

c.3618T>A

4 papers

NM_001429.4

p.N1206K

c.3618T>G

2 papers

NM_001429.4

p.N1206S

c.3617A>G

1 paper

NM_001429.4

p.F1205L

c.3615C>A