Varaico: Literature-Extracted Genetic Variants

Gene:SHPK
Variant:p.R82W

SHPK

75 papers

RefSeq Summary

The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cel...

Pfam Domains

FGGY_Naa 6–265UCSCFGGY family of carbohydrate kinases, N-terminal domain

Gene Aliases

HGNC Name

sedoheptulokinase

HGNC Previous Symbol

CARKL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013276.4
p.R82W
c.244C>T
Surrounding Variants
1 paper
NM_013276.4
p.Q80H
c.240G>T
1 paper
NM_013276.4
p.Q80H
c.240G>C
1 paper
NM_013276.4
p.V84I
c.250G>A
2 papers
NM_013276.4
p.R78*
c.232C>T
2 papers
NM_013276.4
p.G88R
c.262G>C
2 papers
NM_013276.4
p.G88R
c.262G>A
1 paper
NM_013276.4
p.L66_L73del0
c.198_218del21
2 papers
NM_013276.4
p.E71*
c.211G>T
1 paper
NM_013276.4
p.R58Q
c.173G>A
1 paper
NM_013276.4
p.G57A
c.170G>C
1 paper
NM_013276.4
p.V52insFs
c.155_156insCT
1 paper
NM_013276.4
p.A51insFs
c.152_153insC
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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."