Varaico: Literature-Extracted Genetic Variants

Gene:SHMT1
Variant:p.D13G

SHMT1

384 papers

RefSeq Summary

This gene encodes the cytosolic form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and ...

Pfam Domains

SHMTaa 26–425UCSCSerine hydroxymethyltransferase

Gene Aliases

HGNC Name

serine hydroxymethyltransferase 1

HGNC Alias Symbols

cSHMT; MGC15229; MGC24556

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004169.5
p.D13G
c.38A>G
Surrounding Variants
1 paper
NM_004169.5
p.D13V
c.38A>T
1 paper
NM_004169.5
p.D13Y
c.37G>T
1 paper
NM_004169.5
p.W15R
c.43T>C
1 paper
NM_004169.5
p.W15R
c.43T>A
1 paper
NM_004169.5
p.K10K
c.30G>A
1 paper
NM_004169.5
p.A8A
c.24C>T
3 papers
NM_004169.5
p.H18L
c.53A>T
1 paper
NM_004169.5
p.L22L
c.66G>A
2 papers
NM_004169.5
p.M1R
c.2T>G
2 papers
NM_004169.5
p.M1K
c.2T>A
1 paper
NM_004169.5
p.K27Q
c.79A>C
1 paper
NM_004169.5
p.K27R
c.80A>G
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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."