Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.R98H

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
4 papers
NM_006843.3
p.R98H
c.293G>A
Surrounding Variants
2 papers
NM_006843.3
p.R98P
c.293G>C
6 papers
NM_006843.3
p.R98C
c.292C>T
1 paper
NM_006843.3
p.E97_R98insFs
c.291_292insG
3 papers
NM_006843.3
p.R98R
c.294C>A
1 paper
NM_006843.3
p.E97E
c.291G>A
1 paper
NM_006843.3
p.I96_E97del1
c.288_290delTCA
10 papers
NM_006843.3
p.L99F
c.295C>T
1 paper
NM_006843.3
p.L99V
c.295C>G
4 papers
NM_006843.3
p.L99I
c.295C>A
2 papers
NM_006843.3
p.L99fs
c.295_296fs
1 paper
NM_006843.3
p.L99R
c.296T>G
4 papers
NM_006843.3
p.L99P
c.296T>C
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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."