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.E995K

c.2983G>A

Surrounding Variants

1 paper

NM_001429.4

p.Q993R

c.2978A>G

32 papers

NM_001429.4

p.I997V

c.2989A>G

1 paper

NM_001429.4

p.Q993insFs

c.2977_2978insGG

1 paper

NM_001429.4

p.Q993fs

c.2977_2978fs

1 paper

NM_001429.4

p.T992fs

c.2974_2975fs

1 paper

NM_001429.4

p.T992A

c.2974A>G

1 paper

NM_001429.4

p.T992delFs

c.2975delC

1 paper

NM_001429.4

p.S998*

c.2993C>A

1 paper

NM_001429.4

p.S998*

c.2993C>G

2 papers

NM_001429.4

p.D991H

c.2971G>C

1 paper

NM_001429.4

p.A990_D991delFs

c.2968_2971del4

1 paper

NM_001429.4

p.P989fs

c.2965_2966fs