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

5 papers

NM_001429.4

p.W1466L

c.4397G>T

Surrounding Variants

2 papers

NM_001429.4

p.W1466*

c.4397G>A

1 paper

NM_001429.4

p.W1466S

c.4397G>C

2 papers

NM_001429.4

p.W1466*

c.4398G>A

6 papers

NM_001429.4

p.W1466C

c.4398G>C

6 papers

NM_001429.4

p.W1466C

c.4398G>T

4 papers

NM_001429.4

p.W1466R

c.4396T>A

4 papers

NM_001429.4

p.W1466R

c.4396T>C

1 paper

NM_001429.4

p.W1466G

c.4396T>G

22 papers

NM_001429.4

p.Y1467N

c.4399T>A

22 papers

NM_001429.4

p.Y1467H

c.4399T>C

10 papers

NM_001429.4

p.Y1467D

c.4399T>G

3 papers

NM_001429.4

p.Y1467fs

c.4399_4400fs