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.Q2306fs

c.6916_6917fs

Surrounding Variants

2 papers

NM_001429.4

p.Q2306R

c.6917A>G

1 paper

NM_001429.4

p.Q2306delFs

c.6916delC

1 paper

NM_001429.4

p.Q2306H

c.6918A>C

3 papers

NM_001429.4

p.N2305fs

c.6913_6914fs

3 papers

NM_001429.4

p.N2305_Q2306delFs

c.6915_6918del4

2 papers

NM_001429.4

p.R2308C

c.6922C>T

1 paper

NM_001429.4

p.L2303V

c.6907C>G

3 papers

NM_001429.4

p.L2303F

c.6907C>T

1 paper

NM_001429.4

p.S2309F

c.6926C>T

1 paper

NM_001429.4

p.S2302F

c.6905C>T

1 paper

NM_001429.4

p.P2310fs

c.6928_6929fs

4 papers

NM_001429.4

p.P2312S

c.6934C>T