Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.G44S

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.G44S
c.130G>A
Surrounding Variants
1 paper
NM_006843.3
p.G44C
c.130G>T
2 papers
NM_006843.3
p.G44R
c.130G>C
1 paper
NM_006843.3
p.G44V
c.131G>T
1 paper
NM_006843.3
p.R43R
c.129G>T
2 papers
NM_006843.3
p.R43R
c.129G>C
1 paper
NM_006843.3
p.G44A
c.131G>C
9 papers
NM_006843.3
p.R43R
c.129G>A
7 papers
NM_006843.3
p.G44D
c.131G>A
4 papers
NM_006843.3
p.R43L
c.128G>T
13 papers
NM_006843.3
p.R43Q
c.128G>A
1 paper
NM_006843.3
p.I42delFs
c.126delG
1 paper
NM_006843.3
p.F40_R43delFs
c.120_127del8
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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."