Varaico: Literature-Extracted Genetic Variants

Gene:SDSL
Variant:p.W120*

SDSL

67 papers

Pfam Domains

PALPaa 12–310UCSCPyridoxal-phosphate dependent enzyme

Gene Aliases

HGNC Name

serine dehydratase like

HGNC Alias Symbols

SDS-RS1; cSDH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001304993.2
p.W120*
c.360G>A
Surrounding Variants
1 paper
NM_001304993.2
p.W120*
c.359G>A
1 paper
NM_001304993.2
p.P145S
c.433C>T
1 paper
NM_001304993.2
p.W148Splc
c.443+3A>G
1 paper
NM_001304993.2
p.V155L
c.463G>C
1 paper
NM_001304993.2
p.V155L
c.463G>T
1 paper
NM_001304993.2
p.V155E
c.464T>A
1 paper
NM_001304993.2
p.A160T
c.478G>A
1 paper
NM_001304993.2
p.R163G
c.487A>G
2 papers
NM_001304993.2
p.A209V
c.626C>T
1 paper
NM_001304993.2
p.L216P
c.647T>C
1 paper
NM_001304993.2
p.S224R
c.670A>C
1 paper
NM_001304993.2
p.S224Splc
c.671+2T>A
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