Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.C62*

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.C62*
c.186C>A
Surrounding Variants
1 paper
NM_006843.3
p.C62W
c.186C>G
6 papers
NM_006843.3
p.S63A
c.187T>G
1 paper
NM_006843.3
p.S63P
c.187T>C
3 papers
NM_006843.3
p.S63T
c.187T>A
1 paper
NM_006843.3
p.C62insFs
c.184_185insTC
6 papers
NM_006843.3
p.C62S
c.185G>C
5 papers
NM_006843.3
p.C62Y
c.185G>A
1 paper
NM_006843.3
p.S63fs
c.187_188fs
1 paper
NM_006843.3
p.C62G
c.184T>G
1 paper
NM_006843.3
p.C62R
c.184T>C
9 papers
NM_006843.3
p.C62S
c.184T>A
1 paper
NM_006843.3
p.S63F
c.188C>T
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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."