Varaico: Literature-Extracted Genetic Variants

Gene:SLC43A1
Variant:p.L187L

SLC43A1

42 papers

RefSeq Summary

SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM, Mar 2008].

Pfam Domains

MFS_1aa 70–385UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 43 member 1

HGNC Previous Symbol

POV1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003627.6
p.L187L
c.561G>A
Surrounding Variants
1 paper
NM_003627.6
p.L187R
c.560T>G
1 paper
NM_003627.6
p.T201A
c.601A>G
1 paper
NM_003627.6
p.E220K
c.658G>A
1 paper
NM_003627.6
p.V228D
c.683T>A
1 paper
NM_003627.6
p.N229S
c.686A>G
1 paper
NM_003627.6
p.G238V
c.713G>T
1 paper
NM_003627.6
p.S272L
c.815C>T
1 paper
NM_003627.6
p.M276I
c.828G>T
1 paper
NM_003627.6
p.M276I
c.828G>C
1 paper
NM_003627.6
p.M276I
c.828G>A
1 paper
NM_003627.6
p.E290G
c.869A>G
1 paper
NM_003627.6
p.R291Splc
c.871+1G>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."