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

4 papers

NM_001429.4

p.R2088W

c.6262C>T

Surrounding Variants

2 papers

NM_001429.4

p.R2088Q

c.6263G>A

1 paper

NM_001429.4

p.A2090delFs

c.6268delG

1 paper

NM_001429.4

p.A2090fs

c.6268_6269fs

1 paper

NM_001429.4

p.I2085M

c.6255C>G

2 papers

NM_001429.4

p.A2090_K2091Fs

c.6269_6271delinsCCCAGGGATGGGTTGTGGATTAGFs

2 papers

NM_001429.4

p.K2091fs

c.6271_6272fs

1 paper

NM_001429.4

p.K2091N

c.6273G>C

1 paper

NM_001429.4

p.K2091N

c.6273G>T

1 paper

NM_001429.4

p.A2093G

c.6278C>G

1 paper

NM_001429.4

p.A2082T

c.6244G>A

1 paper

NM_001429.4

p.A2082delFs

c.6245delC

1 paper

NM_001429.4

p.A2082fs

c.6244_6245fs