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.S900P

c.2698T>C

Surrounding Variants

1 paper

NM_001429.4

p.S900_L901delFs

c.2700_2701delAC

1 paper

NM_001429.4

p.S900*

c.2699C>A

1 paper

NM_001429.4

p.S900*

c.2699C>G

1 paper

NM_001429.4

p.S900L

c.2699C>T

2 papers

NM_001429.4

p.P899T

c.2695C>A

1 paper

NM_001429.4

p.L901R

c.2702T>G

1 paper

NM_001429.4

p.Q898R

c.2693A>G

1 paper

NM_001429.4

p.Q898E

c.2692C>G

1 paper

NM_001429.4

p.Q898*

c.2692C>T

1 paper

NM_001429.4

p.P902S

c.2704C>T

1 paper

NM_001429.4

p.P902P

c.2706T>A

1 paper

NM_001429.4

p.Q896*

c.2686C>T