Varaico: Literature-Extracted Genetic Variants

Gene:SLC47A1
Variant:p.K110N

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
2 papers
NM_018242.3
p.K110N
c.330G>C
Surrounding Variants
2 papers
NM_018242.3
p.K110N
c.330G>T
1 paper
NM_018242.3
p.N108S
c.323A>G
1 paper
NM_018242.3
p.I115I
c.345C>A
1 paper
NM_018242.3
p.L116L
c.346C>T
1 paper
NM_018242.3
p.R118Q
c.353G>A
1 paper
NM_018242.3
p.V122I
c.364G>A
1 paper
NM_018242.3
p.L123L
c.367C>T
8 papers
NM_018242.3
p.L125F
c.373C>T
1 paper
NM_018242.3
p.L135P
c.404T>C
1 paper
NM_018242.3
p.T137I
c.410C>T
1 paper
NM_018242.3
p.H139R
c.416A>G
1 paper
NM_018242.3
p.L141M
c.421C>A
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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."