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.P91S

c.271C>T

Surrounding Variants

1 paper

NM_001429.4

p.P91T

c.271C>A

1 paper

NM_001429.4

p.S90fs

c.268_269fs

1 paper

NM_001429.4

p.L93insFs

c.277dupC

1 paper

NM_001429.4

p.L93_N94del2

c.277_281del6

1 paper

NM_001429.4

p.L93V

c.277C>G

1 paper

NM_001429.4

p.L93fs

c.277_278fs

1 paper

NM_001429.4

p.L93R

c.278T>G

1 paper

NM_001429.4

p.L93_P100delFs

c.279_298del20

1 paper

NM_001429.4

p.N94fs

c.280_281fs

1 paper

NM_001429.4

p.N94H

c.280A>C

1 paper

NM_001429.4

p.G88fs

c.262_263fs

1 paper

NM_001429.4

p.G88delFs

c.263delG