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

4 papers

NM_001429.4

p.R1821*

c.5461C>T

Surrounding Variants

2 papers

NM_001429.4

p.R1821Q

c.5462G>A

3 papers

NM_001429.4

p.R1821L

c.5462G>T

1 paper

NM_001429.4

p.L1822_M1827del6

c.5464_5480del18

1 paper

NM_001429.4

p.Q1819*

c.5455C>T

1 paper

NM_001429.4

p.L1818L

c.5452C>T

8 papers

NM_001429.4

p.Q1824P

c.5471A>C

1 paper

NM_001429.4

p.Q1817*

c.5449C>T

1 paper

NM_001429.4

p.M1827delFs

c.5481delG

1 paper

NM_001429.4

p.L1828P

c.5483T>C

1 paper

NM_001429.4

p.R1829C

c.5485C>T

2 papers

NM_001429.4

p.R1829H

c.5486G>A

5 papers

NM_001429.4

p.R1829P

c.5486G>C