Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.L29_M31Fs

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.L29_M31Fs
c.86_92delinsGGFs
Surrounding Variants
1 paper
NM_006843.3
p.K30ins0
c.88_90dupAAG
1 paper
NM_006843.3
p.M31R
c.92T>G
2 papers
NM_006843.3
p.M31T
c.92T>C
4 papers
NM_006843.3
p.M31K
c.92T>A
1 paper
NM_006843.3
p.M31delFs
c.91delT
2 papers
NM_006843.3
p.M31I
c.93G>C
30 papers
NM_006843.3
p.M31I
c.93G>A
2 papers
NM_006843.3
p.M31L
c.91A>T
1 paper
NM_006843.3
p.M31V
c.91A>G
3 papers
NM_006843.3
p.M31L
c.91A>C
1 paper
NM_006843.3
p.D32Y
c.94G>T
1 paper
NM_006843.3
p.K30N
c.90G>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."