Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.Y74D

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.Y74D
c.220T>G
Surrounding Variants
3 papers
NM_006843.3
p.Y74N
c.220T>A
2 papers
NM_006843.3
p.Y74F
c.221A>T
1 paper
NM_006843.3
p.Y74C
c.221A>G
1 paper
NM_006843.3
p.Y74S
c.221A>C
1 paper
NM_006843.3
p.Y74insFs
c.221_222ins5
1 paper
NM_006843.3
p.Y74insFs
c.221_222ins4
1 paper
NM_006843.3
p.G69_A73delFs
c.206_218del13
1 paper
NM_006843.3
p.Y74insFs
c.221dupA
3 papers
NM_006843.3
p.Y74*
c.222T>A
2 papers
NM_006843.3
p.A73V
c.218C>T
3 papers
NM_006843.3
p.A73G
c.218C>G
1 paper
NM_006843.3
p.A73insFs
c.218_219insA
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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."