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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLR2J2

Variant:p.S95R

POLR2J2

5 papers

RefSeq Summary

This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this fam...

Pfam Domains

RNA_pol_L_2aa 29–103UCSCRNA polymerase Rpb3/Rpb11 dimerisation domain

Gene Aliases

HGNC Name

RNA polymerase II subunit J2

HGNC Alias Symbol

RPB11b1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr7:102667120 A>C

NM_032959.7

p.S95R

c.285T>G

RNA_pol_L_2

Exome: 15.3% (AC=15150, hom=17)Genome: 0.0% (AC=0, hom=0)95 overlapping SVs

Surrounding Variants

2 papers

chr7:102667120 A>T

NM_032959.7

p.S95R

c.285T>A

RNA_pol_L_2

Exome: 0.0% (AC=0, hom=0)Genome: n/a95 overlapping SVs

2 papers

chr7:102667122 T>G

NM_032959.7

p.S95R

c.283A>C

RNA_pol_L_2

Exome: 0.0% (AC=0, hom=0)Genome: n/a95 overlapping SVs

2 papers

chr7:102668971 C>A

NM_032959.7

p.K28N

c.84G>T

Exome: 21.2% (AC=83811, hom=39574)Genome: 17.1% (AC=6089, hom=1864)95 overlapping SVs

2 papers

chr7:102668971 C>G

NM_032959.7

p.K28N

c.84G>C

Exome: 0.0% (AC=13, hom=1)Genome: 0.0% (AC=2, hom=1)95 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."