Varaico: Literature-Extracted Genetic Variants

Gene:ELOA2
Variant:p.E107delFs

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
2 papers
NM_016427.3
p.E107delFs
c.319delC
Surrounding Variants
2 papers
NM_016427.3
p.E107fs
c.319_320fs
1 paper
NM_016427.3
p.Q106P
c.317A>C
1 paper
NM_016427.3
p.A102S
c.304G>T
1 paper
NM_016427.3
p.R98H
c.293G>A
1 paper
NM_016427.3
p.R98C
c.292C>T
1 paper
NM_016427.3
p.R84G
c.250C>G
1 paper
NM_016427.3
p.R81Q
c.242G>A
1 paper
NM_016427.3
p.R72Q
c.215G>A
1 paper
NM_016427.3
p.R149C
c.445C>T
1 paper
NM_016427.3
p.I160M
c.480A>G
1 paper
NM_016427.3
p.D164N
c.490G>A
1 paper
NM_016427.3
p.R50K
c.149G>A
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