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.Q1874*

c.5620C>T

Surrounding Variants

1 paper

NM_001429.4

p.Q1874L

c.5621A>T

1 paper

NM_001429.4

p.Q1874_P1875insFs

c.5622_5623insT

5 papers

NM_001429.4

p.P1875S

c.5623C>T

1 paper

NM_001429.4

p.P1875fs

c.5623_5624fs

2 papers

NM_001429.4

p.T1872A

c.5614A>G

1 paper

NM_001429.4

p.Q1876*

c.5626C>T

1 paper

NM_001429.4

p.P1871R

c.5612C>G

1 paper

NM_001429.4

p.P1877fs

c.5629_5630fs

1 paper

NM_001429.4

p.P1877L

c.5630C>T

1 paper

NM_001429.4

p.Q1870H

c.5610G>C

1 paper

NM_001429.4

p.Q1870H

c.5610G>T

1 paper

NM_001429.4

p.Q1870delFs

c.5610delG