Varaico: Literature-Extracted Genetic Variants

Gene:MFSD2A
Variant:p.A280G

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.A280G
c.839C>G
Surrounding Variants
1 paper
NM_032793.5
p.A280S
c.838G>T
1 paper
NM_032793.5
p.Y281F
c.842A>T
1 paper
NM_032793.5
p.F282F
c.846C>T
1 paper
NM_032793.5
p.R283W
c.847C>T
1 paper
NM_032793.5
p.R286W
c.856C>T
1 paper
NM_032793.5
p.G292_Y294del3
c.874_881del9
1 paper
NM_032793.5
p.G292insFs
c.874_875insA
1 paper
NM_032793.5
p.L297F
c.889C>T
1 paper
NM_032793.5
p.L297L
c.891T>C
1 paper
NM_032793.5
p.T299A
c.895A>G
1 paper
NM_032793.5
p.G300A
c.899G>C
1 paper
NM_032793.5
p.G300G
c.900C>A
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