Varaico: Literature-Extracted Genetic Variants

Gene:SLC47A1
Variant:p.L69L

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.L69L
c.207G>A
Surrounding Variants
1 paper
NM_018242.3
p.D72N
c.214G>A
13 papers
NM_018242.3
p.G64D
c.191G>A
1 paper
NM_018242.3
p.T75M
c.224C>T
1 paper
NM_018242.3
p.A77E
c.230C>A
1 paper
NM_018242.3
p.M51I
c.153G>A
1 paper
NM_018242.3
p.M51I
c.153G>C
1 paper
NM_018242.3
p.M51I
c.153G>T
1 paper
NM_018242.3
p.L50M
c.148C>A
1 paper
NM_018242.3
p.V88M
c.262G>A
1 paper
NM_018242.3
p.Q102*
c.304C>T
1 paper
NM_018242.3
p.N108S
c.323A>G
2 papers
NM_018242.3
p.K110N
c.330G>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."