Varaico: Literature-Extracted Genetic Variants

Gene:TPI1
Variant:p.K19Q

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
2 papers
NM_000365.6
p.K19Q
c.55A>C
Surrounding Variants
1 paper
NM_000365.6
p.K19R
c.56A>G
1 paper
NM_000365.6
p.R18Q
c.53G>A
1 paper
NM_000365.6
p.Q20R
c.59A>G
1 paper
NM_000365.6
p.Q20L
c.59A>T
1 paper
NM_000365.6
p.S21C
c.61A>T
1 paper
NM_000365.6
p.N16I
c.47A>T
2 papers
NM_000365.6
p.N16D
c.46A>G
1 paper
NM_000365.6
p.L22Q
c.65T>A
1 paper
NM_000365.6
p.L22P
c.65T>C
1 paper
NM_000365.6
p.M15L
c.43A>T
1 paper
NM_000365.6
p.E24_G27delFs
c.71_81del11
1 paper
NM_000365.6
p.E24A
c.71A>C
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