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.A1853P

c.5557G>C

Surrounding Variants

1 paper

NM_001429.4

p.A1853T

c.5557G>A

1 paper

NM_001429.4

p.P1852P

c.5556T>A

1 paper

NM_001429.4

p.P1852L

c.5555C>T

1 paper

NM_001429.4

p.T1851I

c.5552C>T

1 paper

NM_001429.4

p.T1854T

c.5562T>A

1 paper

NM_001429.4

p.T1851P

c.5551A>C

1 paper

NM_001429.4

p.P1855insFs

c.5563_5564insA

1 paper

NM_001429.4

p.P1850L

c.5549C>T

1 paper

NM_001429.4

p.P1850S

c.5548C>T

1 paper

NM_001429.4

p.T1856R

c.5567C>G

2 papers

NM_001429.4

p.T1856M

c.5567C>T

1 paper

NM_001429.4

p.S1849P

c.5545T>C