Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.Y76C

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
3 papers
NM_194255.4
p.Y76C
c.227A>G
Surrounding Variants
1 paper
NM_194255.4
p.Y76F
c.227A>T
1 paper
NM_194255.4
p.Y76*
c.228C>A
1 paper
NM_194255.4
p.S75F
c.224C>T
1 paper
NM_194255.4
p.S75C
c.224C>G
1 paper
NM_194255.4
p.Y74C
c.221A>G
1 paper
NM_194255.4
p.Y74H
c.220T>C
1 paper
NM_194255.4
p.L72del1
c.214_216delCAG
1 paper
NM_194255.4
p.L72L
c.216G>A
1 paper
NM_194255.4
p.L80L
c.240G>A
1 paper
NM_194255.4
p.P70fs
c.208_209fs
3 papers
NM_194255.4
p.P82P
c.246C>G
1 paper
NM_194255.4
p.T69T
c.207G>C
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