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.Q2241H

c.6723G>T

Surrounding Variants

1 paper

NM_001429.4

p.Q2241H

c.6723G>C

1 paper

NM_001429.4

p.Q2241R

c.6722A>G

1 paper

NM_001429.4

p.Q2241K

c.6721C>A

1 paper

NM_001429.4

p.Q2241*

c.6721C>T

1 paper

NM_001429.4

p.G2240del1

c.6718_6720delGGA

1 paper

NM_001429.4

p.Q2244*

c.6730C>T

2 papers

NM_001429.4

p.N2238S

c.6713A>G

1 paper

NM_001429.4

p.P2246S

c.6736C>T

2 papers

NM_001429.4

p.Q2247fs

c.6739_6740fs

1 paper

NM_001429.4

p.Q2247fs

c.6739_6740fs

1 paper

NM_001429.4

p.M2234I

c.6702G>A

1 paper

NM_001429.4

p.M2234I

c.6702G>C