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.K1407Q

c.4219A>C

Surrounding Variants

1 paper

NM_001429.4

p.K1407fs

c.4219_4220fs

1 paper

NM_001429.4

p.K1407delFs

c.4221delA

5 papers

NM_001429.4

p.C1408Y

c.4223G>A

1 paper

NM_001429.4

p.C1408F

c.4223G>T

2 papers

NM_001429.4

p.C1408*

c.4224C>A

1 paper

NM_001429.4

p.R1405H

c.4214G>A

3 papers

NM_001429.4

p.R1405C

c.4213C>T

2 papers

NM_001429.4

p.L1409F

c.4227G>C

2 papers

NM_001429.4

p.L1409F

c.4227G>T

1 paper

NM_001429.4

p.F1404Y

c.4211T>A

2 papers

NM_001429.4

p.R1410G

c.4228A>G

1 paper

NM_001429.4

p.R1410W

c.4228A>T