Varaico: Literature-Extracted Genetic Variants

Gene:SGPL1
Variant:p.Y416C

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
10 papers
NM_003901.4
p.Y416C
c.1247A>G
Surrounding Variants
1 paper
NM_003901.4
p.V417F
c.1249G>T
1 paper
NM_003901.4
p.T420S
c.1259C>G
1 paper
NM_003901.4
p.K421E
c.1261A>G
5 papers
NM_003901.4
p.F411delFs
c.1233delC
7 papers
NM_003901.4
p.F411fs
c.1231_1232fs
1 paper
NM_003901.4
p.Q422_I423delFs
c.1266_1267delGA
1 paper
NM_003901.4
p.Q422fs
c.1264_1265fs
3 papers
NM_003901.4
p.M409R
c.1226T>G
1 paper
NM_003901.4
p.A407S
c.1219G>T
1 paper
NM_003901.4
p.L430F
c.1288C>T
1 paper
NM_003901.4
p.A402T
c.1204G>A
3 papers
NM_003901.4
p.E433Splc
c.1298+6T>C
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