Varaico: Literature-Extracted Genetic Variants

Gene:SLC47A1
Variant:p.A37E

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.A37E
c.110C>A
Surrounding Variants
1 paper
NM_018242.3
p.L38P
c.113T>C
1 paper
NM_018242.3
p.L35Q
c.104T>A
1 paper
NM_018242.3
p.E34D
c.102G>C
1 paper
NM_018242.3
p.R32*
c.94C>T
1 paper
NM_018242.3
p.A42A
c.126T>C
1 paper
NM_018242.3
p.A30S
c.88G>T
3 papers
NM_018242.3
p.S29S
c.87C>T
1 paper
NM_018242.3
p.R27W
c.79C>T
1 paper
NM_018242.3
p.R24H
c.71G>A
1 paper
NM_018242.3
p.R24P
c.71G>C
1 paper
NM_018242.3
p.R21C
c.61C>T
1 paper
NM_018242.3
p.V20I
c.58G>A
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