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.L64F

c.190C>T

Surrounding Variants

1 paper

NM_001429.4

p.Q63Q

c.189G>A

2 papers

NM_001429.4

p.Q63*

c.187C>T

2 papers

NM_001429.4

p.Q65*

c.193C>T

1 paper

NM_001429.4

p.Q65delFs

c.194delA

1 paper

NM_001429.4

p.Q63fs

c.187_188fs

1 paper

NM_001429.4

p.T66fs

c.196_197fs

1 paper

NM_001429.4

p.I61V

c.181A>G

1 paper

NM_001429.4

p.D60V

c.179A>T

1 paper

NM_001429.4

p.L68F

c.202C>T

1 paper

NM_001429.4

p.D60H

c.178G>C

1 paper

NM_001429.4

p.G59D

c.176G>A

1 paper

NM_001429.4

p.G59C

c.175G>T