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.S2336F

c.7007C>T

Surrounding Variants

1 paper

NM_001429.4

p.S2336A

c.7006T>G

1 paper

NM_001429.4

p.H2338_Q2343del0

c.7014_7028del15

1 paper

NM_001429.4

p.P2337L

c.7010C>T

4 papers

NM_001429.4

p.H2339Y

c.7015C>T

1 paper

NM_001429.4

p.P2333L

c.6998C>T

1 paper

NM_001429.4

p.P2333S

c.6997C>T

3 papers

NM_001429.4

p.V2340I

c.7018G>A

1 paper

NM_001429.4

p.V2340G

c.7019T>G

2 papers

NM_001429.4

p.M2331T

c.6992T>C

1 paper

NM_001429.4

p.M2331L

c.6991A>C

1 paper

NM_001429.4

p.M2331L

c.6991A>T

2 papers

NM_001429.4

p.Q2343R

c.7028A>G