Varaico: Literature-Extracted Genetic Variants

Gene:SHPK
Variant:p.T367P

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.T367P
c.1099A>C
Surrounding Variants
1 paper
NM_013276.4
p.G374W
c.1120G>T
1 paper
NM_013276.4
p.E375_R376delFs
c.1123_1126del4
2 papers
NM_013276.4
p.S384A
c.1150T>G
1 paper
NM_013276.4
p.T386fs
c.1156_1157fs
1 paper
NM_013276.4
p.T386_R387delFs
c.1157_1161del5
1 paper
NM_013276.4
p.E344Fs
c.1032delinsTGFs
1 paper
NM_013276.4
p.G342V
c.1025G>T
1 paper
NM_013276.4
p.D392G
c.1175A>G
1 paper
NM_013276.4
p.L402R
c.1205T>G
1 paper
NM_013276.4
p.S412A
c.1234T>G
1 paper
NM_013276.4
p.M413V
c.1237A>G
1 paper
NM_013276.4
p.P415R
c.1244C>G
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