Varaico: Literature-Extracted Genetic Variants

Gene:SHMT2
Variant:p.K103N

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.K103N
c.309G>C
Surrounding Variants
1 paper
NM_005412.6
p.K103N
c.309G>T
1 paper
NM_005412.6
p.E98*
c.292G>T
1 paper
NM_005412.6
p.Y96*
c.288C>A
1 paper
NM_005412.6
p.Y96*
c.288C>G
1 paper
NM_005412.6
p.K95R
c.284A>G
2 papers
NM_005412.6
p.K95Q
c.283A>C
1 paper
NM_005412.6
p.L85Q
c.254T>A
1 paper
NM_005412.6
p.L85P
c.254T>C
1 paper
NM_005412.6
p.Y105F
c.314A>T
1 paper
NM_005412.6
p.Y105*
c.315C>A
1 paper
NM_005412.6
p.Y105*
c.315C>G
3 papers
NM_005412.6
p.Y106F
c.317A>T
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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."