Varaico: Literature-Extracted Genetic Variants

Gene:MFSD2A
Variant:p.T144I

MFSD2A

152 papers

RefSeq Summary

The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier an...

Pfam Domains

MFS_2aa 1–340UCSCMFS/sugar transport protein
MFS_2aa 48–509UCSCMFS/sugar transport protein

Gene Aliases

HGNC Name

MFSD2 lysolipid transporter A, lysophospholipid

HGNC Previous Symbol

MFSD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032793.5
p.T144I
c.431C>T
Surrounding Variants
1 paper
NM_032793.5
p.Y145F
c.434A>T
1 paper
NM_032793.5
p.Q143insFs
c.427_428insA
1 paper
NM_032793.5
p.Y147N
c.439T>A
1 paper
NM_032793.5
p.F139F
c.417C>T
1 paper
NM_032793.5
p.F150L
c.450C>A
1 paper
NM_032793.5
p.P137P
c.411C>A
1 paper
NM_032793.5
p.Y151N
c.451T>A
1 paper
NM_032793.5
p.V136M
c.406G>A
1 paper
NM_032793.5
p.V136L
c.406G>T
1 paper
NM_032793.5
p.F154L
c.460T>C
1 paper
NM_032793.5
p.F154V
c.460T>G
1 paper
NM_032793.5
p.F154L
c.462T>A
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