Varaico: Literature-Extracted Genetic Variants

Gene:SHMT2
Variant:p.L249P

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.L249P
c.746T>C
Surrounding Variants
1 paper
NM_005412.6
p.H247R
c.740A>G
1 paper
NM_005412.6
p.A246V
c.737C>T
1 paper
NM_005412.6
p.K245R
c.734A>G
1 paper
NM_005412.6
p.K269E
c.805A>G
1 paper
NM_005412.6
p.H270del1
c.808_810delCAC
1 paper
NM_005412.6
p.A271T
c.811G>A
1 paper
NM_005412.6
p.V274D
c.821T>A
1 paper
NM_005412.6
p.V274A
c.821T>C
2 papers
NM_005412.6
p.K280Q
c.838A>C
4 papers
NM_005412.6
p.A285T
c.853G>A
1 paper
NM_005412.6
p.Y234S
c.701A>C
1 paper
NM_005412.6
p.D233D
c.699C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."