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

19 papers

NM_001429.4

p.Q2223P

c.6668A>C

Surrounding Variants

1 paper

NM_001429.4

p.Q2223*

c.6667C>T

1 paper

NM_001429.4

p.Q2224*

c.6670C>T

4 papers

NM_001429.4

p.Q2225_R2226del1

c.6674_6676delAGC

1 paper

NM_001429.4

p.Q2225*

c.6673C>T

4 papers

NM_001429.4

p.P2221Q

c.6662C>A

2 papers

NM_001429.4

p.R2226W

c.6676C>T

2 papers

NM_001429.4

p.P2220R

c.6659C>G

1 paper

NM_001429.4

p.R2226Q

c.6677G>A

1 paper

NM_001429.4

p.P2220S

c.6658C>T

1 paper

NM_001429.4

p.M2227T

c.6680T>C

3 papers

NM_001429.4

p.Q2228*

c.6682C>T

1 paper

NM_001429.4

p.H2229Q

c.6687T>A