Varaico: Literature-Extracted Genetic Variants

Gene:SLC46A3

SLC46A3

24 papers

RefSeq Summary

The protein encoded by this gene is a member of a transmembrane protein family that transports small molecules across membranes. The encoded protein has been found in lysosomal membranes, where it can...

Pfam Domains

MFS_1aa 8–400UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 46 member 3

HGNC Alias Symbols

DKFZp686A1775; FLJ42613

Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
2 papers
NM_181785.4
p.G184V
c.551G>T
2 papers
NM_181785.4
p.R244*
c.730C>T
1 paper
NM_181785.4
p.E7D
c.21A>T
1 paper
NM_181785.4
p.E7D
c.21A>C
1 paper
NM_181785.4
p.Y29F
c.86A>T
1 paper
NM_181785.4
p.R100Q
c.299G>A
1 paper
NM_181785.4
p.P103delFs
c.309delA
1 paper
NM_181785.4
p.V109I
c.325G>A
1 paper
NM_181785.4
p.H162Y
c.484C>T
1 paper
NM_181785.4
p.R168Q
c.503G>A
1 paper
NM_181785.4
p.A208D
c.623C>A
1 paper
NM_181785.4
p.L218I
c.652C>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."