Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.L29insFs

SDS

8,783 papers

RefSeq Summary

This gene encodes one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofact...

Pfam Domains

PALPaa 5–304UCSCPyridoxal-phosphate dependent enzyme

Gene Aliases

HGNC Name

serine dehydratase

HGNC Alias Symbol

SDH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006843.3
p.L29insFs
c.85_86insG
Surrounding Variants
3 papers
NM_006843.3
p.L29F
c.85C>T
1 paper
NM_006843.3
p.L29V
c.85C>G
10 papers
NM_006843.3
p.L29I
c.85C>A
3 papers
NM_006843.3
p.L29P
c.86T>C
8 papers
NM_006843.3
p.L29H
c.86T>A
2 papers
NM_006843.3
p.Y28Y
c.84C>T
1 paper
NM_006843.3
p.Y28_L29insFs
c.84_85insG
6 papers
NM_006843.3
p.Y28*
c.84C>A
5 papers
NM_006843.3
p.L29L
c.87C>A
2 papers
NM_006843.3
p.Y28F
c.83A>T
2 papers
NM_006843.3
p.Y28C
c.83A>G
2 papers
NM_006843.3
p.Y28D
c.82T>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."