Varaico: Literature-Extracted Genetic Variants

Gene:SHMT2
Variant:p.R305delFs

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.R305delFs
c.914delG
Surrounding Variants
1 paper
NM_005412.6
p.G326delFs
c.977delG
2 papers
NM_005412.6
p.R348W
c.1042C>T
2 papers
NM_005412.6
p.Y350C
c.1049A>G
1 paper
NM_005412.6
p.A360A
c.1080C>T
4 papers
NM_005412.6
p.A285T
c.853G>A
2 papers
NM_005412.6
p.K280Q
c.838A>C
1 paper
NM_005412.6
p.G375A
c.1124G>C
1 paper
NM_005412.6
p.V274D
c.821T>A
1 paper
NM_005412.6
p.V274A
c.821T>C
1 paper
NM_005412.6
p.A271T
c.811G>A
1 paper
NM_005412.6
p.H270del1
c.808_810delCAC
1 paper
NM_005412.6
p.K269E
c.805A>G
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