Varaico: Literature-Extracted Genetic Variants

Gene:SLC47A1
Variant:p.R11H

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
3 papers
NM_018242.3
p.R11H
c.32G>A
Surrounding Variants
1 paper
NM_018242.3
p.R11R
c.33C>T
1 paper
NM_018242.3
p.G12V
c.35G>T
2 papers
NM_018242.3
p.V10L
c.28G>C
2 papers
NM_018242.3
p.V10L
c.28G>T
1 paper
NM_018242.3
p.P9insFs
c.26_27ins22
1 paper
NM_018242.3
p.G13D
c.38G>A
1 paper
NM_018242.3
p.P9insFs
c.26_27ins4
1 paper
NM_018242.3
p.P9S
c.25C>T
1 paper
NM_018242.3
p.P7T
c.19C>A
1 paper
NM_018242.3
p.V20I
c.58G>A
1 paper
NM_018242.3
p.R21C
c.61C>T
1 paper
NM_018242.3
p.M1T
c.2T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."