Varaico: Literature-Extracted Genetic Variants

Gene:TPI1
Variant:p.Q181_A182Splc

TPI1

373 papers

RefSeq Summary

This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluco...

Pfam Domains

TIMaa 7–248UCSCTriosephosphate isomerase

Gene Aliases

HGNC Name

triosephosphate isomerase 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000365.6
p.Q181_A182Splc
c.544-1G>C
Surrounding Variants
1 paper
NM_000365.6
p.A182T
c.544G>A
1 paper
NM_000365.6
p.Q181_A182Splc
c.544-7G>A
1 paper
NM_000365.6
p.E184K
c.550G>A
1 paper
NM_000365.6
p.Q181_A182Splc
c.544-10C>G
1 paper
NM_000365.6
p.V185G
c.554T>G
1 paper
NM_000365.6
p.H186Y
c.556C>T
1 paper
NM_000365.6
p.Q181_A182Splc
c.544-14G>A
1 paper
NM_000365.6
p.E187Q
c.559G>C
1 paper
NM_000365.6
p.E187A
c.560A>C
5 papers
NM_000365.6
p.R190Q
c.569G>A
8 papers
NM_000365.6
p.W192G
c.574T>G
1 paper
NM_000365.6
p.W192L
c.575G>T
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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."