Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.M70_L79delFs

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.M70_L79delFs
c.210_235del26
Surrounding Variants
2 papers
NM_006843.3
p.L79P
c.236T>C
1 paper
NM_006843.3
p.L79H
c.236T>A
1 paper
NM_006843.3
p.L79delFs
c.235delG
3 papers
NM_006843.3
p.L79F
c.235C>T
2 papers
NM_006843.3
p.L79I
c.235C>A
1 paper
NM_006843.3
p.L79L
c.237C>A
1 paper
NM_006843.3
p.G80C
c.238G>T
2 papers
NM_006843.3
p.G80R
c.238G>C
7 papers
NM_006843.3
p.Q78H
c.234A>T
2 papers
NM_006843.3
p.Q78Q
c.234A>G
2 papers
NM_006843.3
p.Q78H
c.234A>C
7 papers
NM_006843.3
p.G80A
c.239G>C
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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."