Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.C57S

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
14 papers
NM_006843.3
p.C57S
c.169T>A
Surrounding Variants
2 papers
NM_006843.3
p.C57G
c.169T>G
3 papers
NM_006843.3
p.C57F
c.170G>T
6 papers
NM_006843.3
p.C57S
c.170G>C
3 papers
NM_006843.3
p.C57Y
c.170G>A
1 paper
NM_006843.3
p.G56_C57delFs
c.168_169delAG
2 papers
NM_006843.3
p.G56G
c.168C>T
1 paper
NM_006843.3
p.G56G
c.168C>A
2 papers
NM_006843.3
p.G56delFs
c.166delC
1 paper
NM_006843.3
p.Q55_G56del1
c.165_167delCCT
3 papers
NM_006843.3
p.C57*
c.171T>A
2 papers
NM_006843.3
p.G56_C57delFs
c.166_170del5
6 papers
NM_006843.3
p.G56A
c.167G>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."