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.Q974R

c.2921A>G

Surrounding Variants

1 paper

NM_001429.4

p.P972A

c.2914C>G

1 paper

NM_001429.4

p.Q971fs

c.2911_2912fs

2 papers

NM_001429.4

p.M978R

c.2933T>G

2 papers

NM_001429.4

p.E969*

c.2905G>T

1 paper

NM_001429.4

p.A980T

c.2938G>A

1 paper

NM_001429.4

p.A980V

c.2939C>T

1 paper

NM_001429.4

p.K981delFs

c.2941delA

2 papers

NM_001429.4

p.I967S

c.2900T>G

1 paper

NM_001429.4

p.I967insFs

c.2899_2900insGG

1 paper

NM_001429.4

p.M982fs

c.2944_2945fs

1 paper

NM_001429.4

p.A966delFs

c.2898delC

1 paper

NM_001429.4

p.Q965E

c.2893C>G