Varaico: Literature-Extracted Genetic Variants

Gene:SLC38A12
Variant:p.S114P

SLC38A12

41 papers

Pfam Domains

Aa_transaa 13–77UCSCTransmembrane amino acid transporter protein
Aa_transaa 128–491UCSCTransmembrane amino acid transporter protein

Gene Aliases

HGNC Name

solute carrier family 38 member 12

HGNC Previous Symbol

TMEM104

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017728.4
p.S114P
c.340T>C
Surrounding Variants
1 paper
NM_017728.4
p.E105E
c.315G>A
1 paper
NM_017728.4
p.R101fs
c.301_302fs
1 paper
NM_017728.4
p.S96T
c.287G>C
1 paper
NM_017728.4
p.P123L
c.368C>T
1 paper
NM_017728.4
p.E125K
c.373G>A
1 paper
NM_017728.4
p.R129W
c.385C>T
1 paper
NM_017728.4
p.T59fs
c.175_176fs
1 paper
NM_017728.4
p.T59delFs
c.175delA
1 paper
NM_017728.4
p.V58M
c.172G>A
1 paper
NM_017728.4
p.G41R
c.121G>A
1 paper
NM_017728.4
p.G41R
c.121G>C
1 paper
NM_017728.4
p.A40T
c.118G>A
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