Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.A273V

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
4 papers
NM_006843.3
p.A273V
c.818C>T
Surrounding Variants
1 paper
NM_006843.3
p.A273delFs
c.817delC
1 paper
NM_006843.3
p.A273P
c.817G>C
2 papers
NM_006843.3
p.A273T
c.817G>A
1 paper
NM_006843.3
p.A273_L274insFs
c.819_820insT
1 paper
NM_006843.3
p.A273A
c.819C>A
1 paper
NM_006843.3
p.L274L
c.820C>T
1 paper
NM_006843.3
p.L274V
c.820C>G
2 papers
NM_006843.3
p.L274M
c.820C>A
1 paper
NM_006843.3
p.I264_A273del10
c.790_818del30
1 paper
NM_006843.3
p.L274R
c.821T>G
4 papers
NM_006843.3
p.L274P
c.821T>C
2 papers
NM_006843.3
p.L274Q
c.821T>A
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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."