Varaico: Literature-Extracted Genetic Variants

ELP2

80 papers

RefSeq Summary

The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded...

Pfam Domains

WD40aa 48–91UCSCWD domain, G-beta repeat

WD40aa 197–237UCSCWD domain, G-beta repeat

WD40aa 273–320UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

elongator acetyltransferase complex subunit 2

HGNC Previous Symbol

STATIP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_018255.4

p.T128P

c.382A>C

Surrounding Variants

1 paper

NM_018255.4

p.I130M

c.390C>G

1 paper

NM_018255.4

p.A125P

c.373G>C

1 paper

NM_018255.4

p.A134G

c.401C>G

1 paper

NM_018255.4

p.R119insFs

c.356_357ins16

1 paper

NM_018255.4

p.R140Q

c.419G>A

1 paper

NM_018255.4

p.L98F

c.294A>C

1 paper

NM_018255.4

p.L98F

c.294A>T

1 paper

NM_018255.4

p.L98fs

c.292_293fs

1 paper

NM_018255.4

p.L98insFs

c.293dupT

1 paper

NM_018255.4

p.C151Y

c.452G>A

1 paper

NM_018255.4

p.G160E

c.479G>A

1 paper

NM_018255.4

p.L170delFs

c.510delG