Varaico: Literature-Extracted Genetic Variants

Gene:SHMT2

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
1–12 of 107 variants
4 papers
NM_005412.6
p.S50L
c.149C>T
4 papers
NM_005412.6
p.A285T
c.853G>A
3 papers
NM_005412.6
p.Y106F
c.317A>T
3 papers
NM_005412.6
p.D378G
c.1133A>G
3 papers
NM_005412.6
p.P499A
c.1495C>G
2 papers
NM_005412.6
p.P12A
c.34C>G
2 papers
NM_005412.6
p.R62W
c.184A>T
2 papers
NM_005412.6
p.K95Q
c.283A>C
2 papers
NM_005412.6
p.R121C
c.361C>T
2 papers
NM_005412.6
p.R122R
c.364C>A
2 papers
NM_005412.6
p.P157S
c.469C>T
2 papers
NM_005412.6
p.T186R
c.557C>G
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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."