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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELOA2

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 89 variants

3 papers

chr18:47033023 T>C

NM_016427.3

p.R748G

c.2242A>G

Exome: 0.0% (AC=37, hom=0)Genome: 0.0% (AC=2, hom=0)26 overlapping SVs

2 papers

chr18:47034945 TC>T

NM_016427.3

p.E107delFs

c.319delC

Exome: 0.1% (AC=1342, hom=18)Genome: 0.1% (AC=106, hom=0)25 overlapping SVs

2 papers

chr18:47034944 T>TN

NM_016427.3

p.E107fs

c.319_320fs

exact variant not in gnomAD25 overlapping SVs

2 papers

chr18:47034361 C>G

NM_016427.3

p.D302H

c.904G>C

Exome: 0.5% (AC=6968, hom=43)Genome: 0.4% (AC=656, hom=3)25 overlapping SVs

2 papers

chr18:47034322 T>C

NM_016427.3

p.K315E

c.943A>G

Exome: 0.0% (AC=168, hom=2)Genome: 0.0% (AC=20, hom=0)25 overlapping SVs

2 papers

chr18:47034058 C>A

NM_016427.3

p.A403S

c.1207G>T

Exome: 55.4% (AC=810112, hom=226269)Genome: 56.6% (AC=86025, hom=24430)25 overlapping SVs

2 papers

chr18:47033929 C>T

NM_016427.3

p.A446T

c.1336G>A

Exome: 47.9% (AC=698961, hom=170042)Genome: 47.8% (AC=72628, hom=17576)25 overlapping SVs

2 papers

chr18:47033752 C>G

NM_016427.3

p.G505R

c.1513G>C

exact variant not in gnomAD25 overlapping SVs

2 papers

chr18:47033752 C>T

NM_016427.3

p.G505R

c.1513G>A

Exome: 1.6% (AC=23030, hom=206)Genome: 1.1% (AC=1686, hom=18)25 overlapping SVs

2 papers

chr18:47033386 G>A

NM_016427.3

p.R627*

c.1879C>T

Elongin_A

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=2, hom=0)26 overlapping SVs

1 paper

chr18:47035248 G>C

NM_016427.3

p.T6S

c.17C>G

Exome: 7.3% (AC=106662, hom=4300)Genome: 6.4% (AC=9753, hom=348)25 overlapping SVs

1 paper

chr18:47035245 G>A

NM_016427.3

p.T7M

c.20C>T

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=2, hom=0)25 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."