Varaico: Literature-Extracted Genetic Variants

Gene:SHPK
Variant:p.S263P

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
2 papers
NM_013276.4
p.S263P
c.787T>C
Surrounding Variants
1 paper
NM_013276.4
p.S263A
c.787T>G
1 paper
NM_013276.4
p.S263C
c.788C>G
1 paper
NM_013276.4
p.A237V
c.710C>T
1 paper
NM_013276.4
p.E232D
c.696G>T
1 paper
NM_013276.4
p.E232D
c.696G>C
2 papers
NM_013276.4
p.E232K
c.694G>A
1 paper
NM_013276.4
p.H225R
c.674A>G
1 paper
NM_013276.4
p.G221insFs
c.662dupG
1 paper
NM_013276.4
p.S220L
c.659C>T
1 paper
NM_013276.4
p.T207R
c.620C>G
1 paper
NM_013276.4
p.P190fs
c.568_569fs
1 paper
NM_013276.4
p.G176_V183del0
c.527_547del21
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