Varaico: Literature-Extracted Genetic Variants

Gene:SHMT1
Variant:p.Q434*

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.Q434*
c.1300C>T
Surrounding Variants
2 papers
NM_004169.5
p.L433Q
c.1298T>A
1 paper
NM_004169.5
p.E430E
c.1290G>A
1 paper
NM_004169.5
p.D438N
c.1312G>A
1 paper
NM_004169.5
p.I429R
c.1286T>G
1 paper
NM_004169.5
p.T444delFs
c.1332delG
1 paper
NM_004169.5
p.L445_F448del4
c.1333_1343del12
1 paper
NM_004169.5
p.A453A
c.1359A>C
1 paper
NM_004169.5
p.Y457*
c.1371C>G
1 paper
NM_004169.5
p.Y457*
c.1371C>A
1 paper
NM_004169.5
p.A463G
c.1388C>G
1 paper
NM_004169.5
p.E467K
c.1399G>A
1 paper
NM_004169.5
p.S473A
c.1417T>G
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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."