Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.C270insFs

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.C270insFs
c.808_809insCA
Surrounding Variants
1 paper
NM_006843.3
p.C270R
c.808T>C
3 papers
NM_006843.3
p.C270S
c.808T>A
3 papers
NM_006843.3
p.C270S
c.809G>C
2 papers
NM_006843.3
p.C270Y
c.809G>A
2 papers
NM_006843.3
p.A269A
c.807C>T
1 paper
NM_006843.3
p.A269A
c.807C>A
2 papers
NM_006843.3
p.A269V
c.806C>T
1 paper
NM_006843.3
p.A269delFs
c.805delC
1 paper
NM_006843.3
p.G271W
c.811G>T
1 paper
NM_006843.3
p.A269P
c.805G>C
4 papers
NM_006843.3
p.A269T
c.805G>A
1 paper
NM_006843.3
p.G271A
c.812G>C
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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."