Varaico: Literature-Extracted Genetic Variants

Gene:SHMT1
Variant:p.C68*

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.C68*
c.204C>A
Surrounding Variants
1 paper
NM_004169.5
p.G66G
c.198C>T
1 paper
NM_004169.5
p.E63K
c.187G>A
1 paper
NM_004169.5
p.E75D
c.225G>C
1 paper
NM_004169.5
p.A52S
c.154G>T
1 paper
NM_004169.5
p.G47E
c.140G>A
1 paper
NM_004169.5
p.G47R
c.139G>A
1 paper
NM_004169.5
p.R43Q
c.128G>A
3 papers
NM_004169.5
p.K39R
c.116A>G
3 papers
NM_004169.5
p.K38R
c.113A>G
1 paper
NM_004169.5
p.I37F
c.109A>T
1 paper
NM_004169.5
p.V33G
c.98T>G
1 paper
NM_004169.5
p.E32K
c.94G>A
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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."