Varaico: Literature-Extracted Genetic Variants

Gene:SHPK
Variant:p.P451L

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.P451L
c.1352C>T
Surrounding Variants
1 paper
NM_013276.4
p.S453_F454delFs
c.1358_1361del4
1 paper
NM_013276.4
p.A433T
c.1297G>A
1 paper
NM_013276.4
p.E477D
c.1431A>T
1 paper
NM_013276.4
p.E477D
c.1431A>C
1 paper
NM_013276.4
p.E421insFs
c.1262_1263insG
1 paper
NM_013276.4
p.P415R
c.1244C>G
1 paper
NM_013276.4
p.M413V
c.1237A>G
1 paper
NM_013276.4
p.S412A
c.1234T>G
1 paper
NM_013276.4
p.L402R
c.1205T>G
1 paper
NM_013276.4
p.D392G
c.1175A>G
1 paper
NM_013276.4
p.T386_R387delFs
c.1157_1161del5
1 paper
NM_013276.4
p.T386fs
c.1156_1157fs
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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."