Varaico: Literature-Extracted Genetic Variants

Gene:SHPK
Variant:p.S30A

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.S30A
c.88T>G
Surrounding Variants
1 paper
NM_013276.4
p.G31insFs
c.92dupG
1 paper
NM_013276.4
p.A33insFs
c.98_99insG
1 paper
NM_013276.4
p.P26L
c.77C>T
1 paper
NM_013276.4
p.L35L
c.105G>A
1 paper
NM_013276.4
p.A19V
c.56C>T
1 paper
NM_013276.4
p.A19E
c.56C>A
1 paper
NM_013276.4
p.A19T
c.55G>A
1 paper
NM_013276.4
p.V17M
c.49G>A
1 paper
NM_013276.4
p.L12_G13insFs
c.36_37insC
1 paper
NM_013276.4
p.A51insFs
c.152_153insC
1 paper
NM_013276.4
p.V52insFs
c.155_156insCT
1 paper
NM_013276.4
p.T7S
c.19A>T
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