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.S1396P

c.4186T>C

Surrounding Variants

2 papers

NM_001429.4

p.I1395M

c.4185A>G

2 papers

NM_001429.4

p.S1396F

c.4187C>T

1 paper

NM_001429.4

p.I1395T

c.4184T>C

1 paper

NM_001429.4

p.I1395R

c.4184T>G

1 paper

NM_001429.4

p.I1395fs

c.4183_4184fs

1 paper

NM_001429.4

p.I1395L

c.4183A>C

1 paper

NM_001429.4

p.I1395L

c.4183A>T

1 paper

NM_001429.4

p.Y1397H

c.4189T>C

3 papers

NM_001429.4

p.Y1397F

c.4190A>T

5 papers

NM_001429.4

p.L1398F

c.4192C>T

1 paper

NM_001429.4

p.Y1394H

c.4180T>C

5 papers

NM_001429.4

p.Y1394D

c.4180T>G