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.Q2147*

c.6439C>T

Surrounding Variants

1 paper

NM_001429.4

p.Q2147fs

c.6439_6440fs

1 paper

NM_001429.4

p.Q2147delFs

c.6439delC

1 paper

NM_001429.4

p.P2150S

c.6448C>T

1 paper

NM_001429.4

p.G2144fs

c.6430_6431fs

1 paper

NM_001429.4

p.Q2151fs

c.6451_6452fs

1 paper

NM_001429.4

p.A2143T

c.6427G>A

1 paper

NM_001429.4

p.Q2141H

c.6423G>C

1 paper

NM_001429.4

p.Q2141H

c.6423G>T

1 paper

NM_001429.4

p.Q2141*

c.6421C>T

2 papers

NM_001429.4

p.Q2153H

c.6459A>C

2 papers

NM_001429.4

p.Q2153H

c.6459A>T

2 papers

NM_001429.4

p.V2140I

c.6418G>A