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.S923F

c.2768C>T

Surrounding Variants

1 paper

NM_001429.4

p.A922V

c.2765C>T

1 paper

NM_001429.4

p.A922P

c.2764G>C

1 paper

NM_001429.4

p.P925insFs

c.2773_2774insC

26 papers

NM_001429.4

p.P925T

c.2773C>A

1 paper

NM_001429.4

p.P925fs

c.2773_2774fs

1 paper

NM_001429.4

p.P925S

c.2773C>T

1 paper

NM_001429.4

p.P925L

c.2774C>T

1 paper

NM_001429.4

p.A921T

c.2761G>A

1 paper

NM_001429.4

p.T926I

c.2777C>T

1 paper

NM_001429.4

p.S919N

c.2756G>A

1 paper

NM_001429.4

p.Q918_S919insFs

c.2754_2755insA

1 paper

NM_001429.4

p.Q918fs

c.2752_2753fs