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.F1595L

c.4785C>G

Surrounding Variants

1 paper

NM_001429.4

p.F1595L

c.4785C>A

1 paper

NM_001429.4

p.F1595L

c.4783T>C

10 papers

NM_001429.4

p.F1595V

c.4783T>G

2 papers

NM_001429.4

p.F1595fs

c.4783_4784fs

1 paper

NM_001429.4

p.V1594_F1595delins

c.4782_4783delinsGG

2 papers

NM_001429.4

p.F1595delFs

c.4783_4784delTT

1 paper

NM_001429.4

p.V1597_I1598insG

c.4789_4793ins3

1 paper

NM_001429.4

p.V1594_G1603ins3

c.4781_4807dup27

1 paper

NM_001429.4

p.R1599fs

c.4795_4796fs

2 papers

NM_001429.4

p.R1599C

c.4795C>T

2 papers

NM_001429.4

p.R1599H

c.4796G>A

1 paper

NM_001429.4

p.L1600V

c.4798C>G