Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.I282L

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.I282L
c.844A>C
Surrounding Variants
2 papers
NM_006843.3
p.I282V
c.844A>G
2 papers
NM_006843.3
p.I282_Q283ins4
c.844_848ins12
1 paper
NM_006843.3
p.I282S
c.845T>G
2 papers
NM_006843.3
p.I282T
c.845T>C
1 paper
NM_006843.3
p.I282N
c.845T>A
1 paper
NM_006843.3
p.V281V
c.843G>A
2 papers
NM_006843.3
p.V281L
c.841G>T
2 papers
NM_006843.3
p.V281L
c.841G>C
1 paper
NM_006843.3
p.V281M
c.841G>A
3 papers
NM_006843.3
p.Q283*
c.847C>T
1 paper
NM_006843.3
p.G271_I282del12
c.811_845del36
1 paper
NM_006843.3
p.H280Q
c.840C>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."