Varaico: Literature-Extracted Genetic Variants

Gene:RBKS
Variant:p.I254T

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
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_022128.3
p.I254T
c.761T>C
Surrounding Variants
1 paper
NM_022128.3
p.P255delFs
c.765delG
1 paper
NM_022128.3
p.T256fs
c.766_767fs
1 paper
NM_022128.3
p.A238G
c.713C>G
1 paper
NM_022128.3
p.T235A
c.703A>G
1 paper
NM_022128.3
p.L225F
c.675G>T
1 paper
NM_022128.3
p.L225F
c.675G>C
1 paper
NM_022128.3
p.E200A
c.599A>C
1 paper
NM_022128.3
p.P178L
c.533C>T
1 paper
NM_022128.3
p.V172Splc
c.515-64G>T
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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."