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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLR2L

Variant:p.I13T

POLR2L

13 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 contains four conserved cysteines characteristic of ...

Pfam Domains

RNA_pol_Naa 2–59UCSCRNA polymerases N / 8 kDa subunit

Gene Aliases

HGNC Name

RNA polymerase II, I and III subunit L

HGNC Alias Symbols

RPB10beta; RBP10; RPABC5; RPB7.6; hRPB7.6; hsRPB10b

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:842471 A>G

NM_021128.5

p.I13T

c.38T>C

RNA_pol_N

exact variant not in gnomAD6 overlapping SVs

Surrounding Variants

1 paper

chr11:842475 T>A

NM_021128.5

p.K12*

c.34A>T

RNA_pol_N

exact variant not in gnomAD6 overlapping SVs

1 paper

chr11:842480 C>A

NM_021128.5

p.C10F

c.29G>T

RNA_pol_N

exact variant not in gnomAD6 overlapping SVs

2 papers

chr11:842456 C>T

NM_021128.5

p.W18*

c.53G>A

RNA_pol_N

Exome: 0.0% (AC=2, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr11:842500 G>T

NM_021128.5

p.I3I

c.9C>A

RNA_pol_N

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr11:840476 C>T

NM_021128.5

p.A34T

c.100G>A

RNA_pol_N

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=1, hom=0)7 overlapping SVs

1 paper

chr11:840440 G>A

NM_021128.5

p.R46C

c.136C>T

RNA_pol_N

Exome: 0.0% (AC=29, hom=0)Genome: 0.0% (AC=2, hom=0)6 overlapping SVs

1 paper

chr11:840437 G>A

NM_021128.5

p.R47W

c.139C>T

RNA_pol_N

Exome: 0.0% (AC=14, hom=0)Genome: n/a6 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."