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.T132A

c.394A>G

Surrounding Variants

1 paper

NM_001429.4

p.T132fs

c.394_395fs

1 paper

NM_001429.4

p.S133A

c.397T>G

1 paper

NM_001429.4

p.S133Y

c.398C>A

1 paper

NM_001429.4

p.G130V

c.389G>T

2 papers

NM_001429.4

p.A129V

c.386C>T

1 paper

NM_001429.4

p.N135fs

c.403_404fs

1 paper

NM_001429.4

p.N135D

c.403A>G

1 paper

NM_001429.4

p.Q128R

c.383A>G

1 paper

NM_001429.4

p.A129delFs

c.385delG

1 paper

NM_001429.4

p.M136fs

c.406_407fs

1 paper

NM_001429.4

p.M136L

c.406A>T

1 paper

NM_001429.4

p.Q128E

c.382C>G