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.N1717S

c.5150A>G

Surrounding Variants

1 paper

NM_001429.4

p.N1718I

c.5153A>T

1 paper

NM_001429.4

p.S1716T

c.5147G>C

1 paper

NM_001429.4

p.Q1719E

c.5155C>G

1 paper

NM_001429.4

p.Q1719*

c.5155C>T

2 papers

NM_001429.4

p.E1715*

c.5143G>T

1 paper

NM_001429.4

p.T1724T

c.5172C>T

1 paper

NM_001429.4

p.Q1725*

c.5173C>T

1 paper

NM_001429.4

p.S1726R

c.5176A>C

1 paper

NM_001429.4

p.S1726R

c.5178C>A

1 paper

NM_001429.4

p.S1726R

c.5178C>G

1 paper

NM_001429.4

p.G1728G

c.5184C>T

1 paper

NM_001429.4

p.D1729N

c.5185G>A