Varaico: Literature-Extracted Genetic Variants

Gene:TPI1
Variant:p.E130Q

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.E130Q
c.388G>C
Surrounding Variants
1 paper
NM_000365.6
p.G129E
c.386G>A
1 paper
NM_000365.6
p.I128T
c.383T>C
1 paper
NM_000365.6
p.L132_D133insFs
c.396_397insAC
1 paper
NM_000365.6
p.C127S
c.379T>A
1 paper
NM_000365.6
p.A126P
c.376G>C
1 paper
NM_000365.6
p.R135W
c.403A>T
1 paper
NM_000365.6
p.A137T
c.409G>A
1 paper
NM_000365.6
p.A137D
c.410C>A
1 paper
NM_000365.6
p.A137G
c.410C>G
1 paper
NM_000365.6
p.A137_G138delFs
c.411_412delTG
1 paper
NM_000365.6
p.G138S
c.412G>A
2 papers
NM_000365.6
p.G138D
c.413G>A
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