Varaico: Literature-Extracted Genetic Variants

Gene:ELOA2
Variant:p.R748G

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
3 papers
NM_016427.3
p.R748G
c.2242A>G
Surrounding Variants
1 paper
NM_016427.3
p.V735L
c.2203G>T
1 paper
NM_016427.3
p.V735L
c.2203G>C
1 paper
NM_016427.3
p.A732A
c.2196C>G
1 paper
NM_016427.3
p.A722V
c.2165C>T
1 paper
NM_016427.3
p.I701_S715delFs
c.2101_2143del43
1 paper
NM_016427.3
p.S700_S715Fs
c.2100_2143delinsTFs
1 paper
NM_016427.3
p.S700_S715Fs
c.2100_2143delinsGFs
1 paper
NM_016427.3
p.S700_L714delFs
c.2100_2142del43
1 paper
NM_016427.3
p.P712L
c.2135C>T
1 paper
NM_016427.3
p.I701fs
c.2101_2102fs
1 paper
NM_016427.3
p.S700fs
c.2098_2099fs
1 paper
NM_016427.3
p.S699R
c.2097C>G
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