Varaico: Literature-Extracted Genetic Variants

Gene:ELOA2
Variant:p.K315E

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.K315E
c.943A>G
Surrounding Variants
1 paper
NM_016427.3
p.S319G
c.955A>G
1 paper
NM_016427.3
p.R323Q
c.968G>A
1 paper
NM_016427.3
p.G326E
c.977G>A
2 papers
NM_016427.3
p.D302H
c.904G>C
1 paper
NM_016427.3
p.H330H
c.990C>T
1 paper
NM_016427.3
p.G285G
c.855G>A
1 paper
NM_016427.3
p.V361M
c.1081G>A
1 paper
NM_016427.3
p.C254F
c.761G>T
1 paper
NM_016427.3
p.K385fs
c.1153_1154fs
1 paper
NM_016427.3
p.Y386N
c.1156T>A
1 paper
NM_016427.3
p.K385delFs
c.1155delT
1 paper
NM_016427.3
p.P236insFs
c.708dupC
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