Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.C33S

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.C33S
c.98G>C
Surrounding Variants
1 paper
NM_194255.4
p.C33S
c.97T>A
1 paper
NM_194255.4
p.F34C
c.101T>G
3 papers
NM_194255.4
p.L32I
c.94C>A
1 paper
NM_194255.4
p.Y35C
c.104A>G
1 paper
NM_194255.4
p.Y31C
c.92A>G
1 paper
NM_194255.4
p.G36C
c.106G>T
1 paper
NM_194255.4
p.G36S
c.106G>A
1 paper
NM_194255.4
p.C30C
c.90C>T
1 paper
NM_194255.4
p.C30S
c.89G>C
1 paper
NM_194255.4
p.C30R
c.88T>C
1 paper
NM_194255.4
p.C30S
c.88T>A
1 paper
NM_194255.4
p.F37C
c.110T>G
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