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.G1420_Y1421insFs

c.4260_4261insGG

Surrounding Variants

1 paper

NM_001429.4

p.G1420_Y1421insFs

c.4260_4261insCG

1 paper

NM_001429.4

p.Y1421insFs

c.4261dupT

2 papers

NM_001429.4

p.G1420A

c.4259G>C

1 paper

NM_001429.4

p.Y1421H

c.4261T>C

2 papers

NM_001429.4

p.Y1421fs

c.4261_4262fs

1 paper

NM_001429.4

p.I1419T

c.4256T>C

1 paper

NM_001429.4

p.E1423K

c.4267G>A

1 paper

NM_001429.4

p.L1418R

c.4253T>G

1 paper

NM_001429.4

p.E1423A

c.4268A>C

1 paper

NM_001429.4

p.I1417I

c.4251C>T

1 paper

NM_001429.4

p.I1417N

c.4250T>A

1 paper

NM_001429.4

p.I1417_L1418ins5

c.4249_4253ins15