Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.W270C

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.W270C
c.810G>T
Surrounding Variants
1 paper
NM_194255.4
p.W270C
c.810G>C
1 paper
NM_194255.4
p.S271C
c.812C>G
1 paper
NM_194255.4
p.R268H
c.803G>A
1 paper
NM_194255.4
p.R268C
c.802C>T
1 paper
NM_194255.4
p.W273C
c.819G>T
1 paper
NM_194255.4
p.W273C
c.819G>C
1 paper
NM_194255.4
p.W274C
c.822G>T
1 paper
NM_194255.4
p.W274C
c.822G>C
1 paper
NM_194255.4
p.V275V
c.825C>G
1 paper
NM_194255.4
p.F276C
c.827T>G
1 paper
NM_194255.4
p.F276F
c.828C>T
1 paper
NM_194255.4
p.R264Q
c.791G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."