Varaico: Literature-Extracted Genetic Variants

Gene:SLC47A1
Variant:p.T413I

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.T413I
c.1238C>T
Surrounding Variants
1 paper
NM_018242.3
p.N412N
c.1236T>C
3 papers
NM_018242.3
p.I414T
c.1241T>C
1 paper
NM_018242.3
p.A409V
c.1226C>T
1 paper
NM_018242.3
p.G420_L421del1
c.1260_1262delCCT
1 paper
NM_018242.3
p.G424R
c.1270G>A
1 paper
NM_018242.3
p.G424R
c.1270G>C
1 paper
NM_018242.3
p.R400K
c.1199G>A
1 paper
NM_018242.3
p.G397S
c.1189G>A
1 paper
NM_018242.3
p.G396C
c.1186G>T
1 paper
NM_018242.3
p.T432A
c.1294A>G
1 paper
NM_018242.3
p.G437Splc
c.1309+1G>A
1 paper
NM_018242.3
p.L391P
c.1172T>C
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