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.P1907H

c.5720C>A

Surrounding Variants

1 paper

NM_001429.4

p.P1907S

c.5719C>T

2 papers

NM_001429.4

p.P1907fs

c.5719_5720fs

4 papers

NM_001429.4

p.P1908insFs

c.5723dupC

3 papers

NM_001429.4

p.P1907delFs

c.5720delC

1 paper

NM_001429.4

p.T1909P

c.5725A>C

4 papers

NM_001429.4

p.T1909fs

c.5725_5726fs

1 paper

NM_001429.4

p.T1909I

c.5726C>T

1 paper

NM_001429.4

p.P1910S

c.5728C>T

7 papers

NM_001429.4

p.Q1904P

c.5711A>C

1 paper

NM_001429.4

p.P1910_P1911insFs

c.5730_5731insC

1 paper

NM_001429.4

p.G1903D

c.5708G>A

1 paper

NM_001429.4

p.Q1912*

c.5734C>T