Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.P82H

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.P82H
c.245C>A
Surrounding Variants
4 papers
NM_006843.3
p.P82L
c.245C>T
1 paper
NM_006843.3
p.P82S
c.244C>T
1 paper
NM_006843.3
p.P82P
c.246C>G
1 paper
NM_006843.3
p.P82A
c.244C>G
1 paper
NM_006843.3
p.P82insFs
c.244_245insT
1 paper
NM_006843.3
p.P82_A83insFs
c.246_247insG
1 paper
NM_006843.3
p.P82insFs
c.244_245insG
4 papers
NM_006843.3
p.P82T
c.244C>A
2 papers
NM_006843.3
p.P82P
c.246C>A
1 paper
NM_006843.3
p.Q78_V81delFs
c.234_243del10
2 papers
NM_006843.3
p.A83S
c.247G>T
1 paper
NM_006843.3
p.A83P
c.247G>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."