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

2 papers

NM_001429.4

p.F1641L

c.4923C>A

Surrounding Variants

2 papers

NM_001429.4

p.F1641L

c.4923C>G

1 paper

NM_001429.4

p.S1642_S1643del2

c.4924_4928del6

3 papers

NM_001429.4

p.S1642F

c.4925C>T

3 papers

NM_001429.4

p.F1641L

c.4921T>C

1 paper

NM_001429.4

p.S1643L

c.4928C>T

1 paper

NM_001429.4

p.E1640Q

c.4918G>C

1 paper

NM_001429.4

p.L1644F

c.4930C>T

1 paper

NM_001429.4

p.L1639P

c.4916T>C

1 paper

NM_001429.4

p.L1644L

c.4932C>G

7 papers

NM_001429.4

p.R1645*

c.4933C>T

1 paper

NM_001429.4

p.H1638fs

c.4912_4913fs

2 papers

NM_001429.4

p.H1638Y

c.4912C>T