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.Q2288K

c.6862C>A

Surrounding Variants

1 paper

NM_001429.4

p.Q2288R

c.6863A>G

1 paper

NM_001429.4

p.A2289T

c.6865G>A

1 paper

NM_001429.4

p.Q2290delins

c.6868_6869delinsTT

1 paper

NM_001429.4

p.S2291Y

c.6872C>A

1 paper

NM_001429.4

p.S2291F

c.6872C>T

1 paper

NM_001429.4

p.P2292A

c.6874C>G

1 paper

NM_001429.4

p.H2293N

c.6877C>A

1 paper

NM_001429.4

p.L2294Q

c.6881T>A

2 papers

NM_001429.4

p.Q2295K

c.6883C>A

1 paper

NM_001429.4

p.Q2281fs

c.6841_6842fs

1 paper

NM_001429.4

p.G2296C

c.6886G>T

1 paper

NM_001429.4

p.M2278I

c.6834G>A