Varaico: Literature-Extracted Genetic Variants

Gene:ELOA2
Variant:p.P551L

ELOA2

59 papers

RefSeq Summary

This gene encodes the transcriptionally active subunit of the SIII (or elongin) transcription elongation factor complex, which also includes two regulatory subunits, elongins B and C. This complex act...

Pfam Domains

Med26aa 29–77UCSCTFIIS helical bundle-like domain
Elongin_Aaa 544–642UCSCRNA polymerase II transcription factor SIII (Elongin) subunit A

Gene Aliases

HGNC Name

elongin A2

HGNC Previous Symbol

TCEB3B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016427.3
p.P551L
c.1652C>T
Surrounding Variants
1 paper
NM_016427.3
p.L555H
c.1664T>A
1 paper
NM_016427.3
p.P541L
c.1622C>T
1 paper
NM_016427.3
p.D565N
c.1693G>A
1 paper
NM_016427.3
p.Q535H
c.1605G>T
1 paper
NM_016427.3
p.Q535H
c.1605G>C
1 paper
NM_016427.3
p.C533F
c.1598G>T
1 paper
NM_016427.3
p.K572fs
c.1714_1715fs
1 paper
NM_016427.3
p.K572_D573delFs
c.1715_1718del4
1 paper
NM_016427.3
p.Q523R
c.1568A>G
1 paper
NM_016427.3
p.E583G
c.1748A>G
2 papers
NM_016427.3
p.G505R
c.1513G>C
2 papers
NM_016427.3
p.G505R
c.1513G>A
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