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.P1958L

c.5873C>T

Surrounding Variants

1 paper

NM_001429.4

p.P1958S

c.5872C>T

1 paper

NM_001429.4

p.P1958fs

c.5872_5873fs

1 paper

NM_001429.4

p.P1957A

c.5869C>G

2 papers

NM_001429.4

p.M1959I

c.5877G>A

2 papers

NM_001429.4

p.M1959I

c.5877G>C

2 papers

NM_001429.4

p.M1959I

c.5877G>T

1 paper

NM_001429.4

p.P1958delFs

c.5873delC

2 papers

NM_001429.4

p.T1960I

c.5879C>T

1 paper

NM_001429.4

p.M1956K

c.5867T>A

1 paper

NM_001429.4

p.P1961A

c.5881C>G

2 papers

NM_001429.4

p.P1961H

c.5882C>A

1 paper

NM_001429.4

p.M1962T

c.5885T>C