Varaico: Literature-Extracted Genetic Variants

Gene:SLC43A1

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
1–12 of 48 variants
3 papers
NM_003627.6
p.A116V
c.347C>T
2 papers
NM_003627.6
p.R296C
c.886C>T
1 paper
NM_003627.6
p.T4S
c.10A>T
1 paper
NM_003627.6
p.L36L
c.106C>T
1 paper
NM_003627.6
p.M121I
c.363G>T
1 paper
NM_003627.6
p.M121I
c.363G>C
1 paper
NM_003627.6
p.M121I
c.363G>A
1 paper
NM_003627.6
p.F136L
c.406T>C
1 paper
NM_003627.6
p.F136L
c.408C>G
1 paper
NM_003627.6
p.F136L
c.408C>A
1 paper
NM_003627.6
p.A138V
c.413C>T
1 paper
NM_003627.6
p.T155T
c.465G>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."