Varaico: Literature-Extracted Genetic Variants

Gene:SLC48A1

SLC48A1

11 papers

Pfam Domains

HRGaa 8–67UCSCHaem-transporter, endosomal/lysosomal, haem-responsive gene
HRGaa 71–122UCSCHaem-transporter, endosomal/lysosomal, haem-responsive gene

Gene Aliases

HGNC Name

solute carrier family 48 member 1

HGNC Alias Symbols

FLJ20489; hHRG-1; HRG1

Papers
RefSeq ID
Protein change
DNA change
2 papers
NM_017842.3
p.P36L
c.107C>T
1 paper
NM_017842.3
p.G16V
c.47G>T
1 paper
NM_017842.3
p.T55M
c.164C>T
1 paper
NM_017842.3
p.L71L
c.211C>T
1 paper
NM_017842.3
p.G73S
c.217G>A
1 paper
NM_017842.3
p.G73V
c.218G>T
1 paper
NM_017842.3
p.S82L
c.245C>T
1 paper
NM_017842.3
p.A88S
c.262G>T
1 paper
NM_017842.3
p.W115C
c.345G>C
1 paper
NM_017842.3
p.W115C
c.345G>T
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