Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.R14del1

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.R14del1
c.40_41delACG
Surrounding Variants
2 papers
NM_006843.3
p.P6_R14insFs
c.17_42dup26
1 paper
NM_006843.3
p.D15H
c.43G>C
7 papers
NM_006843.3
p.D15N
c.43G>A
1 paper
NM_006843.3
p.I13_R14del2
c.37_41del6
1 paper
NM_006843.3
p.R14R
c.42T>C
7 papers
NM_006843.3
p.R14R
c.42T>A
2 papers
NM_006843.3
p.D15V
c.44A>T
2 papers
NM_006843.3
p.D15G
c.44A>G
12 papers
NM_006843.3
p.D15A
c.44A>C
1 paper
NM_006843.3
p.D15insFs
c.44_45insG
2 papers
NM_006843.3
p.R14L
c.41G>T
6 papers
NM_006843.3
p.R14H
c.41G>A
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