Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.K57N

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
2 papers
NM_194255.4
p.K57N
c.171G>C
Surrounding Variants
1 paper
NM_194255.4
p.N58K
c.174C>G
1 paper
NM_194255.4
p.F59L
c.175T>C
1 paper
NM_194255.4
p.F59S
c.176T>C
2 papers
NM_194255.4
p.D56H
c.166G>C
1 paper
NM_194255.4
p.F59L
c.177C>G
1 paper
NM_194255.4
p.F59L
c.177C>A
1 paper
NM_194255.4
p.P55_D56ins6
c.163_167ins18
1 paper
NM_194255.4
p.G54fs
c.160_161fs
2 papers
NM_194255.4
p.T60T
c.180G>A
1 paper
NM_194255.4
p.G54E
c.161G>A
1 paper
NM_194255.4
p.R61fs
c.181_182fs
1 paper
NM_194255.4
p.R61Fs
c.181_182delinsTFs
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