Varaico: Literature-Extracted Genetic Variants

Gene:SLC47A1
Variant:p.E300A

SLC47A1

88 papers

RefSeq Summary

This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008].

Pfam Domains

MatEaa 44–204UCSCMatE
MatEaa 265–426UCSCMatE

Gene Aliases

HGNC Name

solute carrier family 47 member 1

HGNC Alias Symbols

FLJ10847; MATE1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018242.3
p.E300A
c.899A>C
Surrounding Variants
1 paper
NM_018242.3
p.E300D
c.900A>C
1 paper
NM_018242.3
p.E300D
c.900A>T
1 paper
NM_018242.3
p.Y299F
c.896A>T
1 paper
NM_018242.3
p.Q295*
c.883C>T
1 paper
NM_018242.3
p.Y306F
c.917A>T
1 paper
NM_018242.3
p.A294T
c.880G>A
1 paper
NM_018242.3
p.G293C
c.877G>T
3 papers
NM_018242.3
p.G288S
c.862G>A
1 paper
NM_018242.3
p.L287V
c.859C>G
1 paper
NM_018242.3
p.G285Splc
c.853+2T>C
4 papers
NM_018242.3
p.V279D
c.836T>A
1 paper
NM_018242.3
p.E278D
c.834G>C
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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."