Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.I96L

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.I96L
c.286A>C
Surrounding Variants
1 paper
NM_006843.3
p.I96F
c.286A>T
3 papers
NM_006843.3
p.I96V
c.286A>G
1 paper
NM_006843.3
p.T95delFs
c.285delG
1 paper
NM_006843.3
p.L94_T95del2
c.280_284del6
3 papers
NM_006843.3
p.I96T
c.287T>C
2 papers
NM_006843.3
p.I96N
c.287T>A
2 papers
NM_006843.3
p.P92_I96del0
c.275_286del12
1 paper
NM_006843.3
p.T95T
c.285C>T
1 paper
NM_006843.3
p.T91_L94del0
c.271_282del12
1 paper
NM_006843.3
p.I96I
c.288T>C
2 papers
NM_006843.3
p.I96I
c.288T>A
7 papers
NM_006843.3
p.T95I
c.284C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."