Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.S436S

SLC19A1

506 papers

RefSeq Summary

The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms ...

Pfam Domains

Folate_carrieraa 23–434UCSCReduced folate carrier

Gene Aliases

HGNC Name

solute carrier family 19 member 1

HGNC Alias Symbols

FOLT; IFC-1; hRFC; RFT-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_194255.4
p.S436S
c.1308C>A
Surrounding Variants
1 paper
NM_194255.4
p.S436C
c.1307C>G
1 paper
NM_194255.4
p.Y435*
c.1305C>A
1 paper
NM_194255.4
p.Y435C
c.1304A>G
1 paper
NM_194255.4
p.Y438C
c.1313A>G
1 paper
NM_194255.4
p.F439C
c.1316T>G
1 paper
NM_194255.4
p.Q433delFs
c.1297_1298delTG
1 paper
NM_194255.4
p.Q433L
c.1298A>T
16 papers
NM_194255.4
p.Q433P
c.1298A>C
1 paper
NM_194255.4
p.S443C
c.1328C>G
1 paper
NM_194255.4
p.Y446C
c.1337A>G
1 paper
NM_194255.4
p.F447C
c.1340T>G
1 paper
NM_194255.4
p.A450V
c.1349C>T
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