Varaico: Literature-Extracted Genetic Variants

Gene:MFSD2A
Variant:p.P55S

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.P55S
c.163C>T
Surrounding Variants
1 paper
NM_032793.5
p.L51V
c.151C>G
1 paper
NM_032793.5
p.A50P
c.148G>C
1 paper
NM_032793.5
p.S42C
c.125C>G
1 paper
NM_032793.5
p.Q68H
c.204G>C
1 paper
NM_032793.5
p.Q68H
c.204G>T
2 papers
NM_032793.5
p.L41M
c.121T>A
1 paper
NM_032793.5
p.L41L
c.121T>C
1 paper
NM_032793.5
p.Q39E
c.115C>G
1 paper
NM_032793.5
p.K38R
c.113A>G
1 paper
NM_032793.5
p.K36del1
c.106_108delAAG
1 paper
NM_032793.5
p.A75P
c.223G>C
1 paper
NM_001136493.3
p.V81del1
c.241_242delGTT
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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."