Varaico: Literature-Extracted Genetic Variants

Gene:SHPK
Variant:p.S320L

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.S320L
c.959C>T
Surrounding Variants
1 paper
NM_013276.4
p.G324insFs
c.971_972insC
1 paper
NM_013276.4
p.L315_G316delFs
c.943_946del4
1 paper
NM_013276.4
p.L315L
c.945G>C
1 paper
NM_013276.4
p.V326M
c.976G>A
1 paper
NM_013276.4
p.Y309_F310insFs
c.927_928insG
1 paper
NM_013276.4
p.Y309insFs
c.926_927insG
5 papers
NM_013276.4
p.A339T
c.1015G>A
1 paper
NM_013276.4
p.T297T
c.891T>G
1 paper
NM_013276.4
p.I278_S281del0
c.834_842del9
1 paper
NM_013276.4
p.S279R
c.837C>G
1 paper
NM_013276.4
p.S279R
c.837C>A
1 paper
NM_013276.4
p.S279R
c.835A>C
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