Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.K54M

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
6 papers
NM_006843.3
p.K54M
c.161A>T
Surrounding Variants
2 papers
NM_006843.3
p.K54R
c.161A>G
1 paper
NM_006843.3
p.K54N
c.162G>T
1 paper
NM_006843.3
p.K54_Q55insFs
c.162_163insA
1 paper
NM_006843.3
p.K54N
c.162G>C
2 papers
NM_006843.3
p.K54K
c.162G>A
3 papers
NM_006843.3
p.K54*
c.160A>T
3 papers
NM_006843.3
p.K54E
c.160A>G
2 papers
NM_006843.3
p.K54Q
c.160A>C
1 paper
NM_006843.3
p.A53delFs
c.158delG
1 paper
NM_006843.3
p.Q55*
c.163C>T
3 papers
NM_006843.3
p.Q55E
c.163C>G
3 papers
NM_006843.3
p.Q55K
c.163C>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."