Varaico: Literature-Extracted Genetic Variants

Gene:MFSD2A
Variant:p.R186Splc

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.R186Splc
c.556+1G>A
Surrounding Variants
1 paper
NM_032793.5
p.D180E
c.540T>A
1 paper
NM_032793.5
p.R179insFs
c.535_536insA
1 paper
NM_032793.5
p.T177S
c.530C>G
1 paper
NM_032793.5
p.T177S
c.529A>T
1 paper
NM_032793.5
p.E175insFs
c.524_525insA
1 paper
NM_032793.5
p.I172T
c.515T>C
8 papers
NM_032793.5
p.S166L
c.497C>T
1 paper
NM_032793.5
p.S166T
c.496T>A
1 paper
NM_032793.5
p.Y165N
c.493T>A
3 papers
NM_032793.5
p.P164T
c.490C>A
9 papers
NM_032793.5
p.T159M
c.476C>T
1 paper
NM_032793.5
p.T159S
c.475A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."