Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.F40_K41insFs

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
4 papers
NM_006843.3
p.F40_K41insFs
c.120_121insC
Surrounding Variants
2 papers
NM_006843.3
p.K41*
c.121A>T
5 papers
NM_006843.3
p.K41E
c.121A>G
3 papers
NM_006843.3
p.K41Q
c.121A>C
2 papers
NM_006843.3
p.F40L
c.120C>A
2 papers
NM_006843.3
p.K41M
c.122A>T
4 papers
NM_006843.3
p.K41R
c.122A>G
3 papers
NM_006843.3
p.K41T
c.122A>C
2 papers
NM_006843.3
p.F40S
c.119T>C
7 papers
NM_006843.3
p.F40Y
c.119T>A
2 papers
NM_006843.3
p.K41insFs
c.122dupA
2 papers
NM_006843.3
p.K41K
c.123G>A
1 paper
NM_006843.3
p.F40insFs
c.118_119insA
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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."