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.S2328fs

c.6982_6983fs

Surrounding Variants

1 paper

NM_001429.4

p.S2328F

c.6983C>T

1 paper

NM_001429.4

p.P2329Q

c.6986C>A

1 paper

NM_001429.4

p.P2329L

c.6986C>T

1 paper

NM_001429.4

p.M2331L

c.6991A>C

1 paper

NM_001429.4

p.M2331L

c.6991A>T

2 papers

NM_001429.4

p.M2331T

c.6992T>C

7 papers

NM_001429.4

p.H2324fs

c.6970_6971fs

1 paper

NM_001429.4

p.H2324_S2325ins8

c.6970_6974ins24

10 papers

NM_001429.4

p.H2324fs

c.6970_6971fs

1 paper

NM_001429.4

p.P2323P

c.6969C>G

1 paper

NM_001429.4

p.P2333S

c.6997C>T

1 paper

NM_001429.4

p.P2333L

c.6998C>T