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.G2202S

c.6604G>A

Surrounding Variants

1 paper

NM_001429.4

p.I2201M

c.6603A>G

1 paper

NM_001429.4

p.P2203A

c.6607C>G

1 paper

NM_001429.4

p.G2200E

c.6599G>A

1 paper

NM_001429.4

p.G2200A

c.6599G>C

1 paper

NM_001429.4

p.A2206T

c.6616G>A

1 paper

NM_001429.4

p.G2198W

c.6592G>T

1 paper

NM_001429.4

p.G2196A

c.6587G>C

1 paper

NM_001429.4

p.G2196R

c.6586G>A

1 paper

NM_001429.4

p.G2196R

c.6586G>C

1 paper

NM_001429.4

p.Q2195R

c.6584A>G

4 papers

NM_001429.4

p.N2209_Q2213del5

c.6625_6638del15

1 paper

NM_001429.4

p.N2209fs

c.6625_6626fs