Varaico: Literature-Extracted Genetic Variants

Gene:TPI1

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
1–12 of 206 variants
27 papers
NM_000365.6
p.E105D
c.315G>C
23 papers
NM_000365.6
p.E105D
c.315G>T
8 papers
NM_000365.6
p.W192G
c.574T>G
6 papers
NM_000365.6
p.K142N
c.426G>C
5 papers
NM_000365.6
p.R5R
c.15G>A
5 papers
NM_000365.6
p.R190Q
c.569G>A
4 papers
NM_000365.6
p.E78K
c.232G>A
4 papers
NM_000365.6
p.Q181P
c.542A>C
3 papers
NM_000365.6
p.T28S
c.82A>T
3 papers
NM_000365.6
p.T28S
c.83C>G
3 papers
NM_000365.6
p.P81L
c.242C>T
2 papers
NM_000365.6
p.R5G
c.13A>G
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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."