Varaico: Literature-Extracted Genetic Variants

Gene:MFSD2A
Variant:p.M116I

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.M116I
c.348G>C
Surrounding Variants
1 paper
NM_032793.5
p.P117R
c.350C>G
1 paper
NM_032793.5
p.C111*
c.333C>A
1 paper
NM_032793.5
p.C111R
c.331T>C
1 paper
NM_032793.5
p.P108S
c.322C>T
1 paper
NM_032793.5
p.K106delFs
c.317delA
1 paper
NM_032793.5
p.L102P
c.305T>C
1 paper
NM_032793.5
p.L102F
c.304C>T
1 paper
NM_032793.5
p.V100V
c.300G>A
1 paper
NM_032793.5
p.V100E
c.299T>A
2 papers
NM_032793.5
p.P98S
c.292C>T
6 papers
NM_032793.5
p.D97A
c.290A>C
1 paper
NM_032793.5
p.P98del1
c.292_294delCCC
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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."