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.P936fs

c.2806_2807fs

Surrounding Variants

1 paper

NM_001429.4

p.P936T

c.2806C>A

1 paper

NM_001429.4

p.P936S

c.2806C>T

1 paper

NM_001429.4

p.P936delFs

c.2807delC

1 paper

NM_001429.4

p.Q935*

c.2803C>T

1 paper

NM_001429.4

p.P934T

c.2800C>A

3 papers

NM_001429.4

p.P933L

c.2798C>T

1 paper

NM_001429.4

p.P933fs

c.2797_2798fs

1 paper

NM_001429.4

p.L932F

c.2794C>T

1 paper

NM_001429.4

p.P930L

c.2789C>T

1 paper

NM_001429.4

p.P930insFs

c.2789dupC

1 paper

NM_001429.4

p.A929fs

c.2785_2786fs

1 paper

NM_001429.4

p.T926I

c.2777C>T