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.P2115S

c.6343C>T

Surrounding Variants

1 paper

NM_001429.4

p.P2116delFs

c.6347delC

1 paper

NM_001429.4

p.P2116fs

c.6346_6347fs

1 paper

NM_001429.4

p.G2112del1

c.6334_6335delGGG

1 paper

NM_001429.4

p.P2119R

c.6356C>G

3 papers

NM_001429.4

p.Q2110insFs

c.6329_6330insT

1 paper

NM_001429.4

p.Q2110fs

c.6328_6329fs

2 papers

NM_001429.4

p.Q2110fs

c.6328_6329fs

2 papers

NM_001429.4

p.Q2121*

c.6361C>T

2 papers

NM_001429.4

p.G2109R

c.6325G>A

2 papers

NM_001429.4

p.G2109R

c.6325G>C

2 papers

NM_001429.4

p.Q2108P

c.6323A>C

1 paper

NM_001429.4

p.Q2108R

c.6323A>G