Varaico: Literature-Extracted Genetic Variants

Gene:SHMT2
Variant:p.Y106F

SHMT2

132 papers

RefSeq Summary

This gene encodes the mitochondrial form of a pyridoxal phosphate-dependent enzyme that catalyzes the reversible reaction of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate....

Pfam Domains

SHMTaa 49–448UCSCSerine hydroxymethyltransferase

Gene Aliases

HGNC Name

serine hydroxymethyltransferase 2

HGNC Alias Symbol

mSHMT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005412.6
p.Y106F
c.317A>T
Surrounding Variants
1 paper
NM_005412.6
p.Y106*
c.318T>A
1 paper
NM_005412.6
p.Y106*
c.318T>G
1 paper
NM_005412.6
p.Y105*
c.315C>A
1 paper
NM_005412.6
p.Y105*
c.315C>G
1 paper
NM_005412.6
p.Y105F
c.314A>T
1 paper
NM_005412.6
p.G108fs
c.322_323fs
2 papers
NM_005412.6
p.R121C
c.361C>T
2 papers
NM_005412.6
p.R122R
c.364C>A
1 paper
NM_005412.6
p.A126T
c.376G>A
1 paper
NM_005412.6
p.A149T
c.445G>A
1 paper
NM_005412.6
p.A149P
c.445G>C
1 paper
NM_005412.6
p.A153T
c.457G>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."