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.R1665S

c.4993C>A

Surrounding Variants

2 papers

NM_001429.4

p.R1665C

c.4993C>T

1 paper

NM_001429.4

p.R1665H

c.4994G>A

1 paper

NM_001429.4

p.R1665L

c.4994G>T

2 papers

NM_001429.4

p.Q1661*

c.4981C>T

1 paper

NM_001429.4

p.T1669I

c.5006C>T

1 paper

NM_001429.4

p.T1660M

c.4979C>T

2 papers

NM_001429.4

p.C1670Y

c.5009G>A

1 paper

NM_001429.4

p.C1670*

c.5010C>A

1 paper

NM_001429.4

p.L1658L

c.4972C>T

1 paper

NM_001429.4

p.E1672*

c.5014G>T

1 paper

NM_001429.4

p.E1657K

c.4969G>A

1 paper

NM_001429.4

p.C1673*

c.5019C>A