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.L81_R86del6

c.241_257del18

Surrounding Variants

1 paper

NM_001429.4

p.Q80E

c.238C>G

1 paper

NM_001429.4

p.K79N

c.237A>C

1 paper

NM_001429.4

p.K79N

c.237A>T

1 paper

NM_001429.4

p.L81L

c.243G>T

1 paper

NM_001429.4

p.S82A

c.244T>G

1 paper

NM_001429.4

p.K79E

c.235A>G

1 paper

NM_001429.4

p.K79fs

c.235_236fs

1 paper

NM_001429.4

p.S82*

c.245C>A

1 paper

NM_001429.4

p.S82*

c.245C>G

1 paper

NM_001429.4

p.S82S

c.246A>T

1 paper

NM_001429.4

p.K79delFs

c.237delA

1 paper

NM_001429.4

p.H78L

c.233A>T