Varaico: Literature-Extracted Genetic Variants

Gene:SHMT1
Variant:p.M226L

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.M226L
c.676A>T
Surrounding Variants
2 papers
NM_004169.5
p.M226L
c.676A>C
1 paper
NM_004169.5
p.D228Y
c.682G>T
1 paper
NM_004169.5
p.A223V
c.668C>T
1 paper
NM_004169.5
p.A223T
c.667G>A
1 paper
NM_004169.5
p.G222G
c.666G>A
1 paper
NM_004169.5
p.G222E
c.665G>A
1 paper
NM_004169.5
p.I232fs
c.694_695fs
1 paper
NM_004169.5
p.S233fs
c.697_698fs
1 paper
NM_004169.5
p.S233insFs
c.697dupA
1 paper
NM_004169.5
p.S233S
c.699C>T
1 paper
NM_004169.5
p.G234R
c.700G>A
1 paper
NM_004169.5
p.K216R
c.647A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."