Varaico: Literature-Extracted Genetic Variants

Gene:RBKS
Variant:p.E14A

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
1 paper
NM_022128.3
p.E14A
c.41A>C
Surrounding Variants
1 paper
NM_022128.3
p.E14D
c.42G>T
1 paper
NM_022128.3
p.E14D
c.42G>C
1 paper
NM_022128.3
p.E14Q
c.40G>C
1 paper
NM_022128.3
p.V19A
c.56T>C
2 papers
NM_022128.3
p.D27A
c.80A>C
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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."