Varaico: Literature-Extracted Genetic Variants

Gene:MFSD2A
Variant:p.S516insFs

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
3 papers
NM_032793.5
p.S516insFs
c.1546_1547insC
Surrounding Variants
1 paper
NM_032793.5
p.D511N
c.1531G>A
1 paper
NM_032793.5
p.R510S
c.1530G>C
1 paper
NM_032793.5
p.T524_E525insA
c.1570_1574ins3
1 paper
NM_032793.5
p.E525K
c.1573G>A
1 paper
NM_032793.5
p.K504E
c.1510A>G
1 paper
NM_032793.5
p.K503E
c.1507A>G
1 paper
NM_032793.5
p.Q501H
c.1503G>C
1 paper
NM_032793.5
p.Q501H
c.1503G>T
1 paper
NM_032793.5
p.E497_R498insFs
c.1491_1492insCC
2 papers
NM_032793.5
p.P493L
c.1478C>T
1 paper
NM_032793.5
p.M491L
c.1471A>C
1 paper
NM_032793.5
p.M491L
c.1471A>T
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