Varaico: Literature-Extracted Genetic Variants

Gene:TALDO1
Variant:p.S216N

TALDO1

102 papers

RefSeq Summary

Transaldolase 1 is a key enzyme of the nonoxidative pentose phosphate pathway providing ribose-5-phosphate for nucleic acid synthesis and NADPH for lipid biosynthesis. This pathway can also maintain g...

Pfam Domains

TAL_FSAaa 24–326UCSCTransaldolase/Fructose-6-phosphate aldolase

Gene Aliases

HGNC Name

transaldolase 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006755.2
p.S216N
c.647G>A
Surrounding Variants
2 papers
NM_006755.2
p.Y221C
c.662A>G
1 paper
NM_006755.2
p.N222Y
c.664A>T
1 paper
NM_006755.2
p.G213Splc
c.638-10C>A
2 papers
NM_006755.2
p.Y223*
c.669C>A
4 papers
NM_006755.2
p.Y223*
c.669C>G
1 paper
NM_006755.2
p.K226del1
c.676_678delAAG
2 papers
NM_006755.2
p.I232fs
c.694_695fs
2 papers
NM_006755.2
p.I232delFs
c.695_696delTT
1 paper
NM_006755.2
p.A236T
c.706G>A
2 papers
NM_006755.2
p.R239G
c.715C>G
1 paper
NM_006755.2
p.R239C
c.715C>T
1 paper
NM_006755.2
p.A246T
c.736G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."