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.G2350R

c.7048G>C

Surrounding Variants

1 paper

NM_001429.4

p.G2350R

c.7048G>A

1 paper

NM_001429.4

p.P2349_V2352Fs

c.7047_7055delinsCCACAFs

1 paper

NM_001429.4

p.H2348fs

c.7042_7043fs

2 papers

NM_001429.4

p.A2354S

c.7060G>T

1 paper

NM_001429.4

p.Q2355H

c.7065G>C

1 paper

NM_001429.4

p.N2357_S2366ins3

c.7070_7096dup27

1 paper

NM_001429.4

p.Q2355H

c.7065G>T

1 paper

NM_001429.4

p.T2344A

c.7030A>G

1 paper

NM_001429.4

p.Q2343H

c.7029G>C

1 paper

NM_001429.4

p.Q2343H

c.7029G>T

2 papers

NM_001429.4

p.Q2343R

c.7028A>G

1 paper

NM_001429.4

p.V2340G

c.7019T>G