Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.A65Splc

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
3 papers
NM_006843.3
p.A65Splc
c.193+1G>A
Surrounding Variants
1 paper
NM_006843.3
p.A65Splc
c.193+2T>C
1 paper
NM_006843.3
p.A65Splc
c.193+2T>A
1 paper
NM_006843.3
p.A65_G66ins4
c.193_197ins12
2 papers
NM_006843.3
p.A65T
c.193G>A
2 papers
NM_006843.3
p.S64delFs
c.191_192delCG
1 paper
NM_006843.3
p.S64L
c.191C>T
3 papers
NM_006843.3
p.S64*
c.191C>A
1 paper
NM_006843.3
p.S64delFs
c.190delA
4 papers
NM_006843.3
p.S64A
c.190T>G
1 paper
NM_006843.3
p.S64P
c.190T>C
4 papers
NM_006843.3
p.S64T
c.190T>A
1 paper
NM_006843.3
p.A65Splc
c.193+5G>A
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