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.V1413fs

c.4237_4238fs

Surrounding Variants

1 paper

NM_001429.4

p.V1413_Y1414insA

c.4237_4241ins3

1 paper

NM_001429.4

p.V1413delFs

c.4237delG

2 papers

NM_001429.4

p.V1413D

c.4238T>A

4 papers

NM_001429.4

p.A1412V

c.4235C>T

1 paper

NM_001429.4

p.Y1414_L1418del0

c.4240_4254del15

4 papers

NM_001429.4

p.Y1414D

c.4240T>G

2 papers

NM_001429.4

p.Y1414S

c.4241A>C

30 papers

NM_001429.4

p.Y1414C

c.4241A>G

5 papers

NM_001429.4

p.T1411I

c.4232C>T

1 paper

NM_001429.4

p.Y1414*

c.4242T>A

1 paper

NM_001429.4

p.Y1414*

c.4242T>G

1 paper

NM_001429.4

p.H1415Y

c.4243C>T