Varaico: Literature-Extracted Genetic Variants

Gene:SHPK

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
1–12 of 92 variants
5 papers
NM_013276.4
p.A339T
c.1015G>A
2 papers
NM_013276.4
p.E71*
c.211G>T
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
2 papers
NM_013276.4
p.R119*
c.355C>T
2 papers
NM_013276.4
p.E232K
c.694G>A
2 papers
NM_013276.4
p.S263P
c.787T>C
2 papers
NM_013276.4
p.S384A
c.1150T>G
1 paper
NM_013276.4
p.M1insFs
c.1_2insG
1 paper
NM_013276.4
p.M1I
c.3G>T
1 paper
NM_013276.4
p.A2V
c.5C>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."