Varaico: Literature-Extracted Genetic Variants

Gene:TPI1
Variant:p.N12H

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.N12H
c.34A>C
Surrounding Variants
1 paper
NM_000365.6
p.N12delFs
c.35delA
1 paper
NM_000365.6
p.W13S
c.38G>C
1 paper
NM_000365.6
p.W13C
c.39G>C
1 paper
NM_000365.6
p.W13C
c.39G>T
1 paper
NM_000365.6
p.G10insFs
c.28_29insG
2 papers
NM_000365.6
p.V9D
c.26T>A
1 paper
NM_000365.6
p.M15L
c.43A>T
2 papers
NM_000365.6
p.N16D
c.46A>G
1 paper
NM_000365.6
p.N16I
c.47A>T
1 paper
NM_000365.6
p.F7L
c.21C>A
5 papers
NM_000365.6
p.R5R
c.15G>A
1 paper
NM_000365.6
p.R18Q
c.53G>A
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