Varaico: Literature-Extracted Genetic Variants

Gene:SDSL
Variant:p.L229fs

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.L229fs
c.685_686fs
Surrounding Variants
1 paper
NM_001304993.2
p.S228delFs
c.684delC
2 papers
NM_001304993.2
p.S228fs
c.682_683fs
1 paper
NM_001304993.2
p.T233M
c.698C>T
1 paper
NM_001304993.2
p.Q243*
c.727C>T
1 paper
NM_001304993.2
p.H248N
c.742C>A
1 paper
NM_001304993.2
p.E256A
c.767A>C
1 paper
NM_001304993.2
p.E256D
c.768G>C
1 paper
NM_001304993.2
p.E256D
c.768G>T
1 paper
NM_001304993.2
p.L280*
c.839T>G
1 paper
NM_001304993.2
p.L288P
c.863T>C
1 paper
NM_001304993.2
p.L291I
c.871C>A
1 paper
NM_001304993.2
p.S224Splc
c.671+2T>A
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