Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.A71V

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
3 papers
NM_006843.3
p.A71V
c.212C>T
Surrounding Variants
3 papers
NM_006843.3
p.A71G
c.212C>G
1 paper
NM_006843.3
p.M70insFs
c.210dupG
2 papers
NM_006843.3
p.A71E
c.212C>A
1 paper
NM_006843.3
p.A71A
c.213G>T
1 paper
NM_006843.3
p.A71S
c.211G>T
2 papers
NM_006843.3
p.A71P
c.211G>C
1 paper
NM_006843.3
p.A71A
c.213G>C
2 papers
NM_006843.3
p.A71T
c.211G>A
1 paper
NM_006843.3
p.A71A
c.213G>A
3 papers
NM_006843.3
p.A72S
c.214G>T
1 paper
NM_006843.3
p.M70I
c.210G>T
1 paper
NM_006843.3
p.A72insFs
c.214_215insA
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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."