Varaico: Literature-Extracted Genetic Variants

Gene:ELOA2
Variant:p.K191E

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.K191E
c.571A>G
Surrounding Variants
1 paper
NM_016427.3
p.R179P
c.536G>C
1 paper
NM_016427.3
p.L207V
c.619C>G
1 paper
NM_016427.3
p.R174H
c.521G>A
1 paper
NM_016427.3
p.G210D
c.629G>A
1 paper
NM_016427.3
p.A170D
c.509C>A
1 paper
NM_016427.3
p.G217V
c.650G>T
1 paper
NM_016427.3
p.D164V
c.491A>T
1 paper
NM_016427.3
p.D164N
c.490G>A
1 paper
NM_016427.3
p.I160M
c.480A>G
1 paper
NM_016427.3
p.Q232fs
c.694_695fs
1 paper
NM_016427.3
p.R149C
c.445C>T
1 paper
NM_016427.3
p.E233fs
c.697_698fs
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