Varaico: Literature-Extracted Genetic Variants

Gene:SLC47A1
Variant:p.V480M

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
4 papers
NM_018242.3
p.V480M
c.1438G>A
Surrounding Variants
1 paper
NM_018242.3
p.R482W
c.1444C>T
1 paper
NM_018242.3
p.N474S
c.1421A>G
1 paper
NM_018242.3
p.S486F
c.1457C>T
1 paper
NM_018242.3
p.A473T
c.1417G>A
1 paper
NM_018242.3
p.A469S
c.1405G>T
1 paper
NM_018242.3
p.Q468_A469Splc
c.1405-2A>G
1 paper
NM_018242.3
p.Q468R
c.1403A>G
1 paper
NM_018242.3
p.C466Y
c.1397G>A
7 papers
NM_018242.3
p.A465V
c.1394C>T
1 paper
NM_018242.3
p.W439*
c.1316G>A
1 paper
NM_018242.3
p.C497S
c.1489T>A
1 paper
NM_018242.3
p.C497S
c.1490G>C
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