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

83 papers

NM_001429.4

p.D1399N

c.4195G>A

Surrounding Variants

3 papers

NM_001429.4

p.D1399H

c.4195G>C

55 papers

NM_001429.4

p.D1399Y

c.4195G>T

4 papers

NM_001429.4

p.D1399A

c.4196A>C

7 papers

NM_001429.4

p.D1399G

c.4196A>G

1 paper

NM_001429.4

p.D1399E

c.4197T>A

1 paper

NM_001429.4

p.L1398P

c.4193T>C

1 paper

NM_001429.4

p.L1398R

c.4193T>G

1 paper

NM_001429.4

p.D1399E

c.4197T>G

3 papers

NM_001429.4

p.S1400R

c.4198A>C

1 paper

NM_001429.4

p.S1400G

c.4198A>G

2 papers

NM_001429.4

p.S1400C

c.4198A>T

5 papers

NM_001429.4

p.L1398F

c.4192C>T