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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLR3K

Variant:p.C5S

POLR3K

125 papers

RefSeq Summary

This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subu...

Pfam Domains

Zn_ribbon_RPB9aa 2–37UCSCRNA polymerases M/15 Kd subunit

Zn_ribbon_TFIISaa 67–107UCSCTranscription factor S-II (TFIIS)

Gene Aliases

HGNC Name

RNA polymerase III subunit K

HGNC Alias Symbols

RPC11; C11

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr16:53573 C>G

NM_016310.5

p.C5S

c.14G>C

Zn_ribbon_RPB9

exact variant not in gnomAD11 overlapping SVs

Surrounding Variants

2 papers

chr16:53574 A>T

NM_016310.5

p.C5S

c.13T>A

Zn_ribbon_RPB9

exact variant not in gnomAD11 overlapping SVs

1 paper

chr16:53575 G>T

NM_016310.5

p.F4L

c.12C>A

Zn_ribbon_RPB9

exact variant not in gnomAD11 overlapping SVs

1 paper

chr16:53569 G>A

NM_016310.5

p.P6P

c.18C>T

Zn_ribbon_RPB9

Exome: 0.0% (AC=6, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr16:53569 G>C

NM_016310.5

p.P6P

c.18C>G

Zn_ribbon_RPB9

Exome: 0.0% (AC=4, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr16:53578 C>G

NM_016310.5

p.L3L

c.9G>C

Zn_ribbon_RPB9

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)11 overlapping SVs

1 paper

chr16:53580 G>C

NM_016310.5

p.L3V

c.7C>G

Zn_ribbon_RPB9

exact variant not in gnomAD11 overlapping SVs

1 paper

chr16:53565 A>C

NM_016310.5

p.C8G

c.22T>G

Zn_ribbon_RPB9

exact variant not in gnomAD11 overlapping SVs

1 paper

chr16:53583 G>A

NM_016310.5

p.L2L

c.4C>T

Zn_ribbon_RPB9

Exome: 0.0% (AC=1, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr16:53584 C>A

NM_016310.5

p.M1I

c.3G>T

Exome: 0.0% (AC=3, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr16:53558 T>A

NM_016310.5

p.N10I

c.29A>T

Zn_ribbon_RPB9

exact variant not in gnomAD11 overlapping SVs

1 paper

chr16:53556 C>A

NM_016310.5

p.G11W

c.31G>T

Zn_ribbon_RPB9

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=2, hom=0)11 overlapping SVs

2 papers

chr16:53550 T>C

NM_016310.5

p.I13V

c.37A>G

Zn_ribbon_RPB9

exact variant not in gnomAD11 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."