Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.H59R

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
2 papers
NM_006843.3
p.H59R
c.176A>G
Surrounding Variants
2 papers
NM_006843.3
p.H59L
c.176A>T
1 paper
NM_006843.3
p.H59P
c.176A>C
7 papers
NM_006843.3
p.H59Q
c.177T>G
9 papers
NM_006843.3
p.H59Q
c.177T>A
1 paper
NM_006843.3
p.H59Y
c.175C>T
1 paper
NM_006843.3
p.H59D
c.175C>G
6 papers
NM_006843.3
p.H59N
c.175C>A
1 paper
NM_006843.3
p.A58_H59delins
c.174_175delinsTT
1 paper
NM_006843.3
p.F60V
c.178T>G
2 papers
NM_006843.3
p.F60L
c.178T>C
5 papers
NM_006843.3
p.F60I
c.178T>A
1 paper
NM_006843.3
p.A58A
c.174A>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."