Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.F48insFs

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
1 paper
NM_006843.3
p.F48insFs
c.143_144insA
Surrounding Variants
3 papers
NM_006843.3
p.F48C
c.143T>G
2 papers
NM_006843.3
p.F48S
c.143T>C
2 papers
NM_006843.3
p.F48Y
c.143T>A
1 paper
NM_006843.3
p.F48L
c.142T>C
7 papers
NM_006843.3
p.F48I
c.142T>A
2 papers
NM_006843.3
p.F48L
c.144C>A
1 paper
NM_006843.3
p.C49R
c.145T>C
9 papers
NM_006843.3
p.C49S
c.145T>A
1 paper
NM_006843.3
p.H47H
c.141C>T
2 papers
NM_006843.3
p.H47Q
c.141C>A
1 paper
NM_006843.3
p.C49F
c.146G>T
1 paper
NM_006843.3
p.F48insFs
c.143_144dupTC
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