Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.L7Fs

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.L7Fs
c.20delinsCCFs
Surrounding Variants
1 paper
NM_006843.3
p.L7insFs
c.19_20insC
1 paper
NM_006843.3
p.P6insFs
c.17_18dupCC
3 papers
NM_006843.3
p.L7R
c.20T>G
3 papers
NM_006843.3
p.L7P
c.20T>C
9 papers
NM_006843.3
p.L7Q
c.20T>A
1 paper
NM_006843.3
p.L7L
c.21G>T
1 paper
NM_006843.3
p.L7fs
c.19_20fs
1 paper
NM_006843.3
p.L7L
c.21G>C
4 papers
NM_006843.3
p.L7L
c.21G>A
1 paper
NM_006843.3
p.L7fs
c.19_20fs
1 paper
NM_006843.3
p.L7L
c.19C>T
6 papers
NM_006843.3
p.L7V
c.19C>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."