Varaico: Literature-Extracted Genetic Variants

Gene:MFSD2A
Variant:p.V189insFs

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.V189insFs
c.566_567insA
Surrounding Variants
1 paper
NM_032793.5
p.T194insFs
c.580_581ins40
4 papers
NM_032793.5
p.T198M
c.593C>T
NM_001136493.3
p.T211M
c.632C>T
1 paper
NM_032793.5
p.G206A
c.617G>C
1 paper
NM_032793.5
p.L216F
c.646C>T
1 paper
NM_032793.5
p.S225_A226delFs
c.674_677del4
1 paper
NM_001136493.3
p.H241_H243del3
c.721_728del9
1 paper
NM_032793.5
p.R186Splc
c.556+1G>A
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
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