Varaico: Literature-Extracted Genetic Variants

Gene:RBKS
Variant:p.S79T

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.S79T
c.235T>A
Surrounding Variants
1 paper
NM_022128.3
p.K74_V75Splc
c.223-10T>A
1 paper
NM_022128.3
p.Q90_N91delFs
c.270_271delTC
1 paper
NM_022128.3
p.S94fs
c.280_281fs
1 paper
NM_022128.3
p.S94delFs
c.281delG
1 paper
NM_022128.3
p.T95A
c.283A>G
1 paper
NM_022128.3
p.T101S
c.301A>T
1 paper
NM_022128.3
p.T101S
c.302C>G
1 paper
NM_022128.3
p.T133M
c.398C>T
1 paper
NM_022128.3
p.S144R
c.430A>C
1 paper
NM_022128.3
p.S144R
c.432C>G
1 paper
NM_022128.3
p.S144R
c.432C>A
2 papers
NM_022128.3
p.E154A
c.461A>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."