Varaico: Literature-Extracted Genetic Variants

Gene:ALDOA
Variant:p.P247insFs

ALDOA

90 papers

RefSeq Summary

This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphat...

Pfam Domains

Glycolyticaa 15–364UCSCFructose-bisphosphate aldolase class-I

Gene Aliases

HGNC Name

aldolase, fructose-bisphosphate A

HGNC Previous Name

aldolase A, fructose-bisphosphate

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001243177.4
p.P247insFs
c.739dupC
Surrounding Variants
1 paper
NM_001243177.4
p.L246I
c.736C>A
1 paper
NM_001243177.4
p.R255H
c.764G>A
1 paper
NM_184041.5
p.E207K
c.619G>A
1 paper
NM_001243177.4
p.L271L
c.811C>T
1 paper
NM_001243177.4
p.D273N
c.817G>A
1 paper
NM_001243177.4
p.K284N
c.852G>C
1 paper
NM_001243177.4
p.K284N
c.852G>T
1 paper
NM_001243177.4
p.V288V
c.864C>T
1 paper
NM_001243177.4
p.T289I
c.866C>T
1 paper
NM_001243177.4
p.A304T
c.910G>A
1 paper
NM_001243177.4
p.A306V
c.917C>T
1 paper
NM_001243177.4
p.A310V
c.929C>T
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