Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.V8delFs

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.V8delFs
c.23delA
Surrounding Variants
1 paper
NM_194255.4
p.A7V
c.20C>T
1 paper
NM_194255.4
p.P6S
c.16C>T
1 paper
NM_194255.4
p.P6fs
c.16_17fs
1 paper
NM_194255.4
p.V12L
c.34G>C
1 paper
NM_194255.4
p.V12M
c.34G>A
1 paper
NM_194255.4
p.S5delins
c.14delinsA
1 paper
NM_194255.4
p.V12V
c.36G>C
1 paper
NM_194255.4
p.S4P
c.10T>C
1 paper
NM_194255.4
p.P3A
c.7C>G
1 paper
NM_194255.4
p.V2V
c.6G>A
1 paper
NM_194255.4
p.V2M
c.4G>A
2 papers
NM_194255.4
p.M1I
c.3G>A
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