Varaico: Literature-Extracted Genetic Variants

Gene:SHMT1
Variant:p.A238S

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
1 paper
NM_004169.5
p.A238S
c.712G>T
Surrounding Variants
1 paper
NM_004169.5
p.G239D
c.716G>A
1 paper
NM_004169.5
p.V240M
c.718G>A
1 paper
NM_004169.5
p.G234R
c.700G>A
1 paper
NM_004169.5
p.S233S
c.699C>T
1 paper
NM_004169.5
p.S233insFs
c.697dupA
1 paper
NM_004169.5
p.S233fs
c.697_698fs
1 paper
NM_004169.5
p.I232fs
c.694_695fs
1 paper
NM_004169.5
p.E246K
c.736G>A
1 paper
NM_004169.5
p.D228Y
c.682G>T
1 paper
NM_004169.5
p.C248W
c.744C>G
2 papers
NM_004169.5
p.M226L
c.676A>T
2 papers
NM_004169.5
p.M226L
c.676A>C
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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."