Varaico: Literature-Extracted Genetic Variants

Gene:SLC47A1
Variant:p.T159M

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
4 papers
NM_018242.3
p.T159M
c.476C>T
Surrounding Variants
1 paper
NM_018242.3
p.Q155K
c.463C>A
1 paper
NM_018242.3
p.R152K
c.455G>A
2 papers
NM_018242.3
p.S151F
c.452C>T
1 paper
NM_018242.3
p.D149V
c.446A>T
1 paper
NM_018242.3
p.P148R
c.443C>G
1 paper
NM_018242.3
p.P148S
c.442C>T
1 paper
NM_018242.3
p.L142L
c.426G>T
1 paper
NM_018242.3
p.L141M
c.421C>A
1 paper
NM_018242.3
p.H139R
c.416A>G
1 paper
NM_018242.3
p.T137I
c.410C>T
1 paper
NM_018242.3
p.L135P
c.404T>C
8 papers
NM_018242.3
p.L125F
c.373C>T
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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."