Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.K41_I42del1

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.K41_I42del1
c.122_124delTCT
Surrounding Variants
1 paper
NM_006843.3
p.I42S
c.125T>G
3 papers
NM_006843.3
p.I42T
c.125T>C
3 papers
NM_006843.3
p.I42N
c.125T>A
2 papers
NM_006843.3
p.I42I
c.126C>A
1 paper
NM_006843.3
p.F40_I42delFs
c.119_125del7
3 papers
NM_006843.3
p.I42F
c.124A>T
4 papers
NM_006843.3
p.I42V
c.124A>G
1 paper
NM_006843.3
p.I42L
c.124A>C
2 papers
NM_006843.3
p.K41insFs
c.122dupA
2 papers
NM_006843.3
p.K41K
c.123G>A
3 papers
NM_006843.3
p.R43W
c.127C>T
2 papers
NM_006843.3
p.R43G
c.127C>G
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