Varaico: Literature-Extracted Genetic Variants

Gene:SHMT2
Variant:p.R62W

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.R62W
c.184A>T
Surrounding Variants
1 paper
NM_005412.6
p.Q61R
c.182A>G
1 paper
NM_005412.6
p.Q67fs
c.199_200fs
1 paper
NM_005412.6
p.E55Q
c.163G>C
1 paper
NM_005412.6
p.P54T
c.160C>A
1 paper
NM_005412.6
p.G70R
c.208G>C
1 paper
NM_005412.6
p.S52N
c.155G>A
1 paper
NM_005412.6
p.D51fs
c.151_152fs
4 papers
NM_005412.6
p.S50L
c.149C>T
1 paper
NM_005412.6
p.L49fs
c.145_146fs
1 paper
NM_005412.6
p.A75D
c.224C>A
1 paper
NM_005412.6
p.S48fs
c.142_143fs
1 paper
NM_005412.6
p.E47K
c.139G>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."