Varaico: Literature-Extracted Genetic Variants

Gene:MFSD2A
Variant:p.K31K

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
2 papers
NM_032793.5
p.K31K
c.93G>A
Surrounding Variants
1 paper
NM_032793.5
p.V30M
c.88G>A
1 paper
NM_032793.5
p.A28T
c.82G>A
1 paper
NM_032793.5
p.P27R
c.80C>G
1 paper
NM_032793.5
p.P27S
c.79C>T
1 paper
NM_032793.5
p.R26R
c.78C>G
1 paper
NM_032793.5
p.S19N
c.56G>A
1 paper
NM_032793.5
p.P17insFs
c.50dupC
1 paper
NM_032793.5
p.S11S
c.33C>T
1 paper
NM_032793.5
p.G6delFs
c.18delC
1 paper
NM_032793.5
p.M1I
c.3G>A
1 paper
NM_032793.5
p.M1L
c.1A>C
1 paper
NM_032793.5
p.M1L
c.1A>T
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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."