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

4 papers

NM_001429.4

p.R2263*

c.6787C>T

Surrounding Variants

2 papers

NM_001429.4

p.R2263Q

c.6788G>A

1 paper

NM_001429.4

p.Q2262Q

c.6786G>A

1 paper

NM_001429.4

p.Q2262K

c.6784C>A

15 papers

NM_001429.4

p.Q2266_Q2267del1

c.6798_6800delGCA

1 paper

NM_001429.4

p.Q2266_Q2267del2

c.6796_6800del6

3 papers

NM_001429.4

p.Q2267del1

c.6799_6800delCAA

1 paper

NM_001429.4

p.A2259T

c.6775G>A

1 paper

NM_001429.4

p.A2259fs

c.6775_6776fs

1 paper

NM_001429.4

p.Q2258H

c.6774G>C

1 paper

NM_001429.4

p.Q2258H

c.6774G>T

9 papers

NM_001429.4

p.Q2268del1

c.6802_6803delCAG

1 paper

NM_001429.4

p.A2259delFs

c.6775delG