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

1 paper

NM_018255.4

p.V560F

c.1678G>T

Surrounding Variants

3 papers

NM_018255.4

p.T555P

c.1663A>C

1 paper

NM_018255.4

p.T555A

c.1663A>G

2 papers

NM_018255.4

p.Q553*

c.1657C>T

1 paper

NM_018255.4

p.L551V

c.1651C>G

4 papers

NM_018255.4

p.S527N

c.1580G>A

1 paper

NM_018255.4

p.T580delFs

c.1739_1740delCT

1 paper

NM_018255.4

p.S584*

c.1751C>A

1 paper

NM_018255.4

p.S584*

c.1751C>G

1 paper

NM_018255.4

p.Q511delFs

c.1531_1532delCA

1 paper

NM_018255.4

p.Q511del1

c.1531_1532delCAG

1 paper

NM_018255.4

p.F510delFs

c.1529_1530delTT

1 paper

NM_018255.4

p.F510del1

c.1528_1529delTTT