Varaico: Literature-Extracted Genetic Variants

Gene:TPI1
Variant:p.P45L

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.P45L
c.134C>T
Surrounding Variants
1 paper
NM_000365.6
p.P45P
c.135T>A
1 paper
NM_000365.6
p.T46A
c.136A>G
1 paper
NM_000365.6
p.P44T
c.130C>A
1 paper
NM_000365.6
p.P44S
c.130C>T
1 paper
NM_000365.6
p.A47T
c.139G>A
2 papers
NM_000365.6
p.A43T
c.127G>A
1 paper
NM_000365.6
p.Y48H
c.142T>C
1 paper
NM_000365.6
p.Y48S
c.143A>C
2 papers
NM_000365.6
p.Y48F
c.143A>T
1 paper
NM_000365.6
p.D50G
c.149A>G
1 paper
NM_000365.6
p.D50V
c.149A>T
2 papers
NM_000365.6
p.V40E
c.119T>A
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