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.N1968S

c.5903A>G

Surrounding Variants

1 paper

NM_001429.4

p.P1969P

c.5907A>C

1 paper

NM_001429.4

p.M1967V

c.5899A>G

1 paper

NM_001429.4

p.P1970S

c.5908C>T

1 paper

NM_001429.4

p.G1966V

c.5897G>T

2 papers

NM_001429.4

p.P1971S

c.5911C>T

1 paper

NM_001429.4

p.P1971H

c.5912C>A

1 paper

NM_001429.4

p.M1965V

c.5893A>G

1 paper

NM_001429.4

p.M1972L

c.5914A>C

1 paper

NM_001429.4

p.M1972V

c.5914A>G

1 paper

NM_001429.4

p.M1972L

c.5914A>T

1 paper

NM_001429.4

p.M1965_P1969del5

c.5893_5906del15

1 paper

NM_001429.4

p.P1964L

c.5891C>T