Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.R14C

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
2 papers
NM_006843.3
p.R14C
c.40C>T
Surrounding Variants
4 papers
NM_006843.3
p.R14G
c.40C>G
3 papers
NM_006843.3
p.R14S
c.40C>A
2 papers
NM_006843.3
p.R14L
c.41G>T
6 papers
NM_006843.3
p.R14H
c.41G>A
2 papers
NM_006843.3
p.I13M
c.39C>G
10 papers
NM_006843.3
p.I13I
c.39C>A
1 paper
NM_006843.3
p.I13insFs
c.38_39insG
1 paper
NM_006843.3
p.I13S
c.38T>G
2 papers
NM_006843.3
p.I13T
c.38T>C
1 paper
NM_006843.3
p.R14R
c.42T>C
7 papers
NM_006843.3
p.R14R
c.42T>A
2 papers
NM_006843.3
p.I13N
c.38T>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."