Varaico: Literature-Extracted Genetic Variants

Gene:SHMT2
Variant:p.M177I

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
1 paper
NM_005412.6
p.M177I
c.531G>C
Surrounding Variants
1 paper
NM_005412.6
p.M177I
c.531G>A
1 paper
NM_005412.6
p.M177I
c.531G>T
1 paper
NM_005412.6
p.R182W
c.544C>T
1 paper
NM_005412.6
p.T173A
c.517A>G
2 papers
NM_005412.6
p.T186R
c.557C>G
1 paper
NM_005412.6
p.M193I
c.579G>T
1 paper
NM_005412.6
p.K200R
c.599A>G
1 paper
NM_005412.6
p.K200N
c.600A>C
1 paper
NM_005412.6
p.K200N
c.600A>T
1 paper
NM_005412.6
p.Y206*
c.618C>A
1 paper
NM_005412.6
p.N207S
c.620A>G
1 paper
NM_005412.6
p.L211R
c.632T>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."