Varaico: Literature-Extracted Genetic Variants

Gene:SLC47A1
Variant:p.R545Q

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.R545Q
c.1634G>A
Surrounding Variants
1 paper
NM_018242.3
p.I556V
c.1666A>G
1 paper
NM_018242.3
p.G534D
c.1601G>A
1 paper
NM_018242.3
p.G560R
c.1678G>A
1 paper
NM_018242.3
p.G560R
c.1678G>C
2 papers
NM_018242.3
p.Y566C
c.1697A>G
1 paper
NM_018242.3
p.R522C
c.1564C>T
1 paper
NM_018242.3
p.Q519H
c.1557G>C
1 paper
NM_018242.3
p.Q519H
c.1557G>T
1 paper
NM_018242.3
p.*571*
c.1712G>A
1 paper
NM_018242.3
p.Q516R
c.1547A>G
1 paper
NM_018242.3
p.K511R
c.1532A>G
1 paper
NM_018242.3
p.L501H
c.1502T>A
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