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.P842fs

c.2524_2525fs

Surrounding Variants

2 papers

NM_001429.4

p.P842S

c.2524C>T

1 paper

NM_001429.4

p.P842R

c.2525C>G

1 paper

NM_001429.4

p.P842P

c.2526T>A

1 paper

NM_001429.4

p.T841fs

c.2521_2522fs

2 papers

NM_001429.4

p.T841P

c.2521A>C

1 paper

NM_001429.4

p.T841A

c.2521A>G

1 paper

NM_001429.4

p.P842delFs

c.2525delC

1 paper

NM_001429.4

p.T841fs

c.2521_2522fs

2 papers

NM_001429.4

p.P840H

c.2519C>A

1 paper

NM_001429.4

p.P840fs

c.2518_2519fs

1 paper

NM_001429.4

p.T845P

c.2533A>C

1 paper

NM_001429.4

p.T839A

c.2515A>G