Varaico: Literature-Extracted Genetic Variants

Gene:SHMT1

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
1–12 of 119 variants
208 papers
NM_004169.5
p.L474F
c.1420C>T
3 papers
NM_004169.5
p.H18L
c.53A>T
3 papers
NM_004169.5
p.K38R
c.113A>G
3 papers
NM_004169.5
p.K39R
c.116A>G
2 papers
NM_004169.5
p.M1R
c.2T>G
2 papers
NM_004169.5
p.M1K
c.2T>A
2 papers
NM_004169.5
p.D13G
c.38A>G
2 papers
NM_004169.5
p.Y82F
c.245A>T
2 papers
NM_004169.5
p.Y83F
c.248A>T
2 papers
NM_004169.5
p.P122T
c.364C>A
2 papers
NM_004169.5
p.P134L
c.401C>T
2 papers
NM_004169.5
p.M226L
c.676A>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."