Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.N290insFs

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.N290insFs
c.868_869insT
Surrounding Variants
1 paper
NM_006843.3
p.G289delFs
c.867delC
1 paper
NM_006843.3
p.N290I
c.869A>T
1 paper
NM_006843.3
p.G289A
c.866G>C
2 papers
NM_006843.3
p.G289E
c.866G>A
1 paper
NM_006843.3
p.G289W
c.865G>T
4 papers
NM_006843.3
p.L291F
c.871C>T
1 paper
NM_006843.3
p.E288_N290del3
c.862_869del9
1 paper
NM_006843.3
p.L291H
c.872T>A
2 papers
NM_006843.3
p.E288D
c.864G>T
2 papers
NM_006843.3
p.E288D
c.864G>C
2 papers
NM_006843.3
p.E288E
c.864G>A
1 paper
NM_006843.3
p.E288G
c.863A>G
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