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.S1882N

c.5645G>A

Surrounding Variants

1 paper

NM_001429.4

p.M1883V

c.5647A>G

1 paper

NM_001429.4

p.P1885L

c.5654C>T

1 paper

NM_001429.4

p.P1879S

c.5635C>T

1 paper

NM_001429.4

p.Y1886C

c.5657A>G

1 paper

NM_001429.4

p.P1879delFs

c.5636delC

1 paper

NM_001429.4

p.T1878delFs

c.5632delA

1 paper

NM_001429.4

p.P1877L

c.5630C>T

1 paper

NM_001429.4

p.P1877fs

c.5629_5630fs

1 paper

NM_001429.4

p.P1888L

c.5663C>T

1 paper

NM_001429.4

p.Q1876*

c.5626C>T

5 papers

NM_001429.4

p.P1875S

c.5623C>T

1 paper

NM_001429.4

p.P1875fs

c.5623_5624fs