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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLR2J

Variant:p.N44I

POLR2J

12 papers

RefSeq Summary

This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene exists as a heterodimer with another polymerase subu...

Pfam Domains

RNA_pol_L_2aa 30–104UCSCRNA polymerase Rpb3/Rpb11 dimerisation domain

Gene Aliases

HGNC Name

RNA polymerase II subunit J

HGNC Alias Symbols

RPB11; hRPB14; RPB11A; RPB11m; POLR2J1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr7:102476193 T>A

NM_006234.6

p.N44I

c.131A>T

RNA_pol_L_2

exact variant not in gnomAD97 overlapping SVs

Surrounding Variants

1 paper

chr7:102476208 T>G

NM_006234.6

p.D39A

c.116A>C

RNA_pol_L_2

exact variant not in gnomAD97 overlapping SVs

1 paper

chr7:102476211 T>G

NM_006234.6

p.E38A

c.113A>C

RNA_pol_L_2

exact variant not in gnomAD97 overlapping SVs

1 paper

chr7:102476219 G>C

NM_006234.6

p.I35M

c.105C>G

RNA_pol_L_2

Exome: 0.0% (AC=205, hom=3)Genome: 0.0% (AC=14, hom=0)97 overlapping SVs

1 paper

chr7:102473669 T>C

NM_006234.6

p.K112E

c.334A>G

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)96 overlapping SVs

1 paper

chr7:102478855 G>C

NM_006234.6

p.N2K

c.6C>G

exact variant not in gnomAD96 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."