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

2 papers

NM_001429.4

p.L84*

c.251T>A

Surrounding Variants

1 paper

NM_001429.4

p.L84V

c.250T>G

1 paper

NM_001429.4

p.L84_S87del4

c.250_260del12

1 paper

NM_001429.4

p.L85_R86insFs

c.255_256insG

1 paper

NM_001429.4

p.S82S

c.246A>T

8 papers

NM_001429.4

p.R86*

c.256C>T

1 paper

NM_001429.4

p.S82*

c.245C>A

1 paper

NM_001429.4

p.S82*

c.245C>G

2 papers

NM_001429.4

p.R86Q

c.257G>A

2 papers

NM_001429.4

p.R86L

c.257G>T

1 paper

NM_001429.4

p.S82A

c.244T>G

1 paper

NM_001429.4

p.L81L

c.243G>T

1 paper

NM_001429.4

p.S87fs

c.259_260fs