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

3 papers

NM_018255.4

p.A799V

c.2396C>T

Surrounding Variants

1 paper

NM_018255.4

p.E795G

c.2384A>G

1 paper

NM_018255.4

p.R820_V821delFs

c.2460_2461delAG

2 papers

NM_018255.4

p.R820fs

c.2458_2459fs

1 paper

NM_018255.4

p.H778_T779delFs

c.2332_2336del5

1 paper

NM_018255.4

p.K756fs

c.2266_2267fs

1 paper

NM_018255.4

p.C746fs

c.2236_2237fs

1 paper

NM_018255.4

p.C746delFs

c.2237delG

1 paper

NM_018255.4

p.Y738C

c.2213A>G

1 paper

NM_018255.4

p.Q736E

c.2206C>G

1 paper

NM_018255.4

p.P730L

c.2189C>T

1 paper

NM_018255.4

p.P730S

c.2188C>T

1 paper

NM_018255.4

p.S714C

c.2141C>G