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

7 papers

NM_001429.4

p.H2324fs

c.6970_6971fs

Surrounding Variants

1 paper

NM_001429.4

p.H2324_S2325ins8

c.6970_6974ins24

10 papers

NM_001429.4

p.H2324fs

c.6970_6971fs

1 paper

NM_001429.4

p.P2323P

c.6969C>G

4 papers

NM_001429.4

p.P2322fs

c.6964_6965fs

5 papers

NM_001429.4

p.P2322insFs

c.6964_6965insC

2 papers

NM_001429.4

p.P2323_H2324insFs

c.6969_6970dupCC

8 papers

NM_001429.4

p.H2324delFs

c.6970delC

4 papers

NM_001429.4

p.Q2321fs

c.6961_6962fs

2 papers

NM_001429.4

p.Q2321*

c.6961C>T

1 paper

NM_001429.4

p.S2328fs

c.6982_6983fs

1 paper

NM_001429.4

p.S2328F

c.6983C>T

1 paper

NM_001429.4

p.Q2319_S2320ins1

c.6957_6958insCCC