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.T247A

c.739A>G

Surrounding Variants

1 paper

NM_018255.4

p.K237R

c.710A>G

1 paper

NM_018255.4

p.L232L

c.696G>C

5 papers

NM_018255.4

p.H206R

c.617A>G

NM_001242875.3

p.H271R

c.812A>G

1 paper

NM_018255.4

p.Q198E

c.592C>G

1 paper

NM_018255.4

p.Q192R

c.575A>G

1 paper

NM_018255.4

p.Q192*

c.574C>T

1 paper

NM_018255.4

p.I189L

c.565A>C

1 paper

NM_018255.4

p.I189L

c.565A>T

1 paper

NM_018255.4

p.N182K

c.546T>A

1 paper

NM_018255.4

p.E276D

c.828G>C

1 paper

NM_018255.4

p.E283G

c.848A>G

1 paper

NM_018255.4

p.V286A

c.857T>C