Varaico: Literature-Extracted Genetic Variants

Gene:SPNS2
Variant:p.T322T

SPNS2

44 papers

RefSeq Summary

The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a ca...

Pfam Domains

MFS_1aa 108–476UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

SPNS lysolipid transporter 2, sphingosine-1-phosphate

HGNC Alias Symbol

SLC63A2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001124758.3
p.T322T
c.966G>A
Surrounding Variants
1 paper
NM_001124758.3
p.T322M
c.965C>T
2 papers
NM_001124758.3
p.S319del1
c.955_957delTCC
1 paper
NM_001124758.3
p.V316I
c.946G>A
1 paper
NM_001124758.3
p.R313C
c.937C>T
1 paper
NM_001124758.3
p.P337L
c.1010C>T
1 paper
NM_001124758.3
p.R342H
c.1025G>A
1 paper
NM_001124758.3
p.P356fs
c.1066_1067fs
2 papers
NM_001124758.3
p.P356Fs
c.1066_1067delinsTFs
1 paper
NM_001124758.3
p.P356fs
c.1066_1067fs
1 paper
NM_001124758.3
p.N312Splc
c.935+115C>T
1 paper
NM_001124758.3
p.G374A
c.1121G>C
1 paper
NM_001124758.3
p.G377G
c.1131C>T
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