Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.I45I

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
5 papers
NM_006843.3
p.I45I
c.135T>A
Surrounding Variants
1 paper
NM_006843.3
p.I45_G46insFs
c.135_136ins13
2 papers
NM_006843.3
p.I45I
c.135T>C
5 papers
NM_006843.3
p.I45T
c.134T>C
1 paper
NM_006843.3
p.I45N
c.134T>A
1 paper
NM_006843.3
p.I45delFs
c.133delT
1 paper
NM_006843.3
p.G46R
c.136G>C
5 papers
NM_006843.3
p.G46R
c.136G>A
1 paper
NM_006843.3
p.I45del1
c.133_134delAAT
4 papers
NM_006843.3
p.G46V
c.137G>T
2 papers
NM_006843.3
p.G46A
c.137G>C
18 papers
NM_006843.3
p.G46E
c.137G>A
6 papers
NM_006843.3
p.I45F
c.133A>T
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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."