Varaico: Literature-Extracted Genetic Variants

Gene:SHPK
Variant:p.T207R

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.T207R
c.620C>G
Surrounding Variants
1 paper
NM_013276.4
p.P190fs
c.568_569fs
1 paper
NM_013276.4
p.G176_V183del0
c.527_547del21
1 paper
NM_013276.4
p.T177I
c.530C>T
1 paper
NM_013276.4
p.G176S
c.526G>A
1 paper
NM_013276.4
p.A175D
c.524C>A
1 paper
NM_013276.4
p.D173G
c.518A>G
1 paper
NM_013276.4
p.R165H
c.494G>A
1 paper
NM_013276.4
p.R165H
c.494G>A
1 paper
NM_013276.4
p.G154S
c.460G>A
1 paper
NM_013276.4
p.T151A
c.451A>G
1 paper
NM_013276.4
p.P141L
c.422C>T
1 paper
NM_013276.4
p.R131Q
c.392G>A
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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."