Varaico: Literature-Extracted Genetic Variants

Gene:SLC47A1
Variant:p.V348I

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.V348I
c.1042G>A
Surrounding Variants
6 papers
NM_018242.3
p.V338I
c.1012G>A
1 paper
NM_018242.3
p.A332G
c.995C>G
2 papers
NM_018242.3
p.Q331*
c.991C>T
1 paper
NM_018242.3
p.E330K
c.988G>A
4 papers
NM_018242.3
p.D328A
c.983A>C
1 paper
NM_018242.3
p.F312Y
c.935T>A
2 papers
NM_018242.3
p.A310V
c.929C>T
4 papers
NM_018242.3
p.M307_V308Splc
c.922-158G>A
1 paper
NM_018242.3
p.Y306F
c.917A>T
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.E300A
c.899A>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."