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

2 papers

NM_001429.4

p.L2402F

c.7206G>T

Surrounding Variants

2 papers

NM_001429.4

p.L2402F

c.7206G>C

1 paper

NM_001429.4

p.N2403_S2407insFs

c.7207_7219dup13

1 paper

NM_001429.4

p.N2403fs

c.7207_7208fs

1 paper

NM_001429.4

p.S2404A

c.7210T>G

1 paper

NM_001429.4

p.L2406insFs

c.7217_7218insTT

4 papers

NM_001429.4

p.Q2408delFs

c.7222_7223delCA

1 paper

NM_001429.4

p.S2407*

c.7220C>A

1 paper

NM_001429.4

p.S2407*

c.7220C>G

3 papers

NM_001429.4

p.D2398N

c.7192G>A

1 paper

NM_001429.4

p.Q2408fs

c.7222_7223fs

4 papers

NM_001429.4

p.Q2408fs

c.7222_7223fs

1 paper

NM_001429.4

p.L2395P

c.7184T>C