Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.A58E

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.A58E
c.173C>A
Surrounding Variants
3 papers
NM_006843.3
p.A58V
c.173C>T
1 paper
NM_006843.3
p.A58G
c.173C>G
1 paper
NM_006843.3
p.A58S
c.172G>T
1 paper
NM_006843.3
p.C57insFs
c.171dupT
3 papers
NM_006843.3
p.A58P
c.172G>C
2 papers
NM_006843.3
p.A58T
c.172G>A
1 paper
NM_006843.3
p.A58A
c.174A>T
1 paper
NM_006843.3
p.A58delFs
c.173delG
3 papers
NM_006843.3
p.C57*
c.171T>A
2 papers
NM_006843.3
p.G56_C57delFs
c.166_170del5
1 paper
NM_006843.3
p.H59Y
c.175C>T
1 paper
NM_006843.3
p.H59D
c.175C>G
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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."