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.P113L

c.338C>T

Surrounding Variants

1 paper

NM_001429.4

p.G114R

c.340G>A

1 paper

NM_001429.4

p.G114R

c.340G>C

1 paper

NM_001429.4

p.L115S

c.344T>C

1 paper

NM_001429.4

p.Q110L

c.329A>T

1 paper

NM_001429.4

p.G116D

c.347G>A

1 paper

NM_001429.4

p.Q110_S111ins8

c.328_332ins24

1 paper

NM_001429.4

p.Q109fs

c.325_326fs

1 paper

NM_001429.4

p.A108A

c.324C>T

1 paper

NM_001429.4

p.I118I

c.354A>C

1 paper

NM_001429.4

p.A108T

c.322G>A

1 paper

NM_001429.4

p.Q107H

c.321G>C

1 paper

NM_001429.4

p.Q107H

c.321G>T