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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RBKS

Variant:p.F51L

RBKS

31 papers

RefSeq Summary

This gene encodes a member of the carbohydrate kinase PfkB family. The encoded protein phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose m...

Pfam Domains

PfkBaa 15–314UCSCpfkB family carbohydrate kinase

Gene Aliases

HGNC Name

ribokinase

HGNC Alias Symbols

DKFZp686G13268; RBSK

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr2:27858508 A>T

NM_022128.3

p.F51L

c.153T>A

PfkB

exact variant not in gnomAD78 overlapping SVs

Surrounding Variants

1 paper

chr2:27858499 T>A

NM_022128.3

p.K54N

c.162A>T

PfkB

exact variant not in gnomAD78 overlapping SVs

1 paper

chr2:27858499 T>G

NM_022128.3

p.K54N

c.162A>C

PfkB

exact variant not in gnomAD78 overlapping SVs

2 papers

chr2:27858477 C>T

NM_022128.3

p.A62T

c.184G>A

PfkB

Exome: 0.0% (AC=73, hom=0)Genome: n/a78 overlapping SVs

1 paper

chr2:27858560 C>T

NM_022128.3

p.R34H

c.101G>A

PfkB

Exome: 0.0% (AC=74, hom=0)Genome: 0.0% (AC=28, hom=0)78 overlapping SVs

1 paper

chr2:27858561 G>A

NM_022128.3

p.R34C

c.100C>T

PfkB

Exome: 0.0% (AC=142, hom=0)Genome: 0.0% (AC=14, hom=0)78 overlapping SVs

1 paper

chr2:27858563 G>A

NM_022128.3

p.S33F

c.98C>T

PfkB

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=2, hom=0)78 overlapping SVs

1 paper

chr2:27858565 A>T

NM_022128.3

p.T32T

c.96T>A

PfkB

exact variant not in gnomAD78 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."