Varaico: Literature-Extracted Genetic Variants

Gene:SHMT2
Variant:p.Q27R

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.Q27R
c.80A>G
Surrounding Variants
1 paper
NM_001166359.1
p.Q6K
c.16C>A
1 paper
NM_005412.6
p.A26A
c.78T>A
2 papers
NM_005412.6
p.P12A
c.34C>G
1 paper
NM_005412.6
p.T44A
c.130A>G
1 paper
NM_005412.6
p.E47K
c.139G>A
1 paper
NM_005412.6
p.E47fs
c.139_140fs
1 paper
NM_005412.6
p.S48fs
c.142_143fs
1 paper
NM_005412.6
p.L49fs
c.145_146fs
4 papers
NM_005412.6
p.S50L
c.149C>T
1 paper
NM_005412.6
p.D51fs
c.151_152fs
1 paper
NM_005412.6
p.S52N
c.155G>A
1 paper
NM_005412.6
p.P54T
c.160C>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."