Varaico: Literature-Extracted Genetic Variants

Gene:SLC47A1
Variant:p.E273D

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.E273D
c.819G>T
Surrounding Variants
1 paper
NM_018242.3
p.E273D
c.819G>C
2 papers
NM_018242.3
p.E273A
c.818A>C
1 paper
NM_018242.3
p.E273K
c.817G>A
5 papers
NM_018242.3
p.E273Q
c.817G>C
1 paper
NM_018242.3
p.A276T
c.826G>A
1 paper
NM_018242.3
p.C271G
c.811T>G
1 paper
NM_018242.3
p.Y277F
c.830A>T
1 paper
NM_018242.3
p.L270L
c.808C>T
1 paper
NM_018242.3
p.M269T
c.806T>C
1 paper
NM_018242.3
p.E278A
c.833A>C
1 paper
NM_018242.3
p.E278D
c.834G>C
1 paper
NM_018242.3
p.E278D
c.834G>T
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."