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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC43A1

Variant:p.T4S

SLC43A1

11q12.1 (UCSC)OMIM GTEx

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr11:57514102 T>A

NM_003627.6

p.T4S

c.10A>T

exact variant not in gnomAD32 overlapping SVs

Surrounding Variants

chr11:57514006 G>A

NM_003627.6

p.L36L

c.106C>T

Exome: 0.0% (AC=36, hom=0)Genome: 0.0% (AC=1, hom=0)33 overlapping SVs

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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."