Varaico: Literature-Extracted Genetic Variants

Gene:SHMT1
Variant:p.R213W

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.R213W
c.637C>T
Surrounding Variants
1 paper
NM_004169.5
p.R213P
c.638G>C
1 paper
NM_004169.5
p.L214V
c.640C>G
1 paper
NM_004169.5
p.L214fs
c.640_641fs
1 paper
NM_004169.5
p.R215W
c.643C>T
1 paper
NM_004169.5
p.R215L
c.644G>T
1 paper
NM_004169.5
p.L214_R215delFs
c.642_643delGT
1 paper
NM_004169.5
p.K216R
c.647A>G
1 paper
NM_004169.5
p.R207*
c.619C>T
1 paper
NM_004169.5
p.G222E
c.665G>A
1 paper
NM_004169.5
p.G222G
c.666G>A
1 paper
NM_004169.5
p.A223T
c.667G>A
1 paper
NM_004169.5
p.A223V
c.668C>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."