Varaico: Literature-Extracted Genetic Variants

Gene:MFSD2A

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
1–12 of 152 variants
9 papers
NM_032793.5
p.T159M
c.476C>T
8 papers
NM_032793.5
p.S166L
c.497C>T
8 papers
NM_032793.5
p.S339L
c.1016C>T
6 papers
NM_032793.5
p.D97A
c.290A>C
5 papers
NM_032793.5
p.P402H
c.1205C>A
4 papers
NM_032793.5
p.R326H
c.977G>A
3 papers
NM_032793.5
p.P55S
c.163C>T
3 papers
NM_032793.5
p.P164T
c.490C>A
3 papers
NM_032793.5
p.T198M
c.593C>T
3 papers
NM_032793.5
p.S404C
c.1211C>G
3 papers
NM_032793.5
p.S516insFs
c.1546_1547insC
2 papers
NM_032793.5
p.K31K
c.93G>A
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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."