Varaico: Literature-Extracted Genetic Variants

Gene:SGPL1
Variant:p.R505*

SGPL1

151 papers

Pfam Domains

Pyridoxal_deCaa 175–453UCSCPyridoxal-dependent decarboxylase conserved domain

Gene Aliases

HGNC Name

sphingosine-1-phosphate lyase 1

HGNC Alias Symbol

SPL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_003901.4
p.R505*
c.1513C>T
Surrounding Variants
1 paper
NM_003901.4
p.R505Q
c.1514G>A
1 paper
NM_003901.4
p.I511fs
c.1531_1532fs
1 paper
NM_003901.4
p.I498delFs
c.1492_1493delAT
1 paper
NM_003901.4
p.R495*
c.1483C>T
1 paper
NM_003901.4
p.A492T
c.1474G>A
5 papers
NM_003901.4
p.M522_G523Splc
c.1566+2T>C
1 paper
NM_003901.4
p.S482Splc
c.1446-1G>A
1 paper
NM_003901.4
p.A529V
c.1586C>T
1 paper
NM_003901.4
p.R535delFs
c.1605delG
1 paper
NM_003901.4
p.S542_V544delFs
c.1626_1632del7
11 papers
NM_003901.4
p.F545del1
c.1633_1634delTTC
1 paper
NM_003901.4
p.V544delFs
c.1632delC
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