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

2 papers

NM_001429.4

p.L36R

c.107T>G

Surrounding Variants

1 paper

NM_001429.4

p.F37_T51del15

c.109_152del45

2 papers

NM_001429.4

p.L36_F37delFs

c.108_111del4

1 paper

NM_001429.4

p.F37_T51del0

c.110_151del42

1 paper

NM_001429.4

p.S35F

c.104C>T

1 paper

NM_001429.4

p.F37insFs

c.110_111ins8

1 paper

NM_001429.4

p.S35A

c.103T>G

4 papers

NM_001429.4

p.S35fs

c.103_104fs

3 papers

NM_001429.4

p.S35fs

c.103_104fs

1 paper

NM_001429.4

p.D38N

c.112G>A

2 papers

NM_001429.4

p.D38H

c.112G>C

1 paper

NM_001429.4

p.G34V

c.101G>T

8 papers

NM_001429.4

p.S35_L36delFs

c.104_107del4