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.Q107*

c.319C>T

Surrounding Variants

1 paper

NM_001429.4

p.Q107E

c.319C>G

1 paper

NM_001429.4

p.S106S

c.318C>T

1 paper

NM_001429.4

p.Q107_Q110del4

c.319_329del12

1 paper

NM_001429.4

p.Q107H

c.321G>C

1 paper

NM_001429.4

p.Q107H

c.321G>T

1 paper

NM_001429.4

p.A108_S111del4

c.322_332del12

4 papers

NM_001429.4

p.S106G

c.316A>G

1 paper

NM_001429.4

p.A108T

c.322G>A

1 paper

NM_001429.4

p.A105V

c.314C>T

1 paper

NM_001429.4

p.A108A

c.324C>T

1 paper

NM_001429.4

p.Q109fs

c.325_326fs

1 paper

NM_001429.4

p.Q110_S111ins8

c.328_332ins24