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.H2414Q

c.7242C>A

Surrounding Variants

1 paper

NM_001429.4

p.H2414Q

c.7242C>G

1 paper

NM_001429.4

p.*2415fs

c.7243_7244fs

1 paper

NM_001429.4

p.*2415Y

c.7245G>C

1 paper

NM_001429.4

p.I2413_H2414delFs

c.7238_7242del5

1 paper

NM_001429.4

p.D2412E

c.7236C>A

1 paper

NM_001429.4

p.D2412E

c.7236C>G

1 paper

NM_001429.4

p.T2410I

c.7229C>T

1 paper

NM_001429.4

p.Q2408fs

c.7222_7223fs

4 papers

NM_001429.4

p.Q2408fs

c.7222_7223fs

1 paper

NM_001429.4

p.S2407*

c.7220C>A

1 paper

NM_001429.4

p.S2407*

c.7220C>G

4 papers

NM_001429.4

p.Q2408delFs

c.7222_7223delCA