Varaico: Literature-Extracted Genetic Variants

Gene:SLC49A4
Variant:p.A288P

SLC49A4

44 papers

RefSeq Summary

This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell ...

Pfam Domains

MFS_1aa 58–436UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 49 member 4

HGNC Previous Symbol

DIRC2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032839.3
p.A288P
c.862G>C
Surrounding Variants
1 paper
NM_032839.3
p.Y289C
c.866A>G
1 paper
NM_032839.3
p.L283insFs
c.848_849insT
3 papers
NM_032839.3
p.R281*
c.841C>T
1 paper
NM_032839.3
p.A310A
c.930G>T
1 paper
NM_032839.3
p.V312I
c.934G>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."