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.S441_Q447del0

c.1323_1340del18

Surrounding Variants

1 paper

NM_001429.4

p.L443delFs

c.1327_1328delCT

1 paper

NM_001429.4

p.L443insFs

c.1327_1328ins5

1 paper

NM_001429.4

p.L443fs

c.1327_1328fs

1 paper

NM_001429.4

p.L443fs

c.1327_1328fs

1 paper

NM_001429.4

p.G444R

c.1330G>A

1 paper

NM_001429.4

p.G444R

c.1330G>C

1 paper

NM_001429.4

p.G438R

c.1312G>A

1 paper

NM_001429.4

p.G438*

c.1312G>T

1 paper

NM_001429.4

p.Q447*

c.1339C>T

1 paper

NM_001429.4

p.Q448delFs

c.1342_1343delCA

1 paper

NM_001429.4

p.V435I

c.1303G>A

1 paper

NM_001429.4

p.P434P

c.1302C>A