Varaico: Literature-Extracted Genetic Variants

Gene:SHMT2
Variant:p.G423S

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
2 papers
NM_005412.6
p.G423S
c.1267G>A
Surrounding Variants
1 paper
NM_005412.6
p.R425W
c.1273C>T
1 paper
NM_005412.6
p.R425Q
c.1274G>A
1 paper
NM_005412.6
p.R416*
c.1246C>T
1 paper
NM_005412.6
p.N410S
c.1229A>G
1 paper
NM_005412.6
p.A394T
c.1180G>A
2 papers
NM_005412.6
p.G427E
c.1280G>A
1 paper
NM_005412.6
p.A428T
c.1282G>A
2 papers
NM_005412.6
p.N379D
c.1135A>G
1 paper
NM_005412.6
p.R434Q
c.1301G>A
3 papers
NM_005412.6
p.D378G
c.1133A>G
2 papers
NM_005412.6
p.Q435P
c.1304A>C
2 papers
NM_005412.6
p.R437H
c.1310G>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."