Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A1
Variant:p.T49A

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.T49A
c.145A>G
Surrounding Variants
1 paper
NM_194255.4
p.T49T
c.147C>G
1 paper
NM_194255.4
p.P50S
c.148C>T
6 papers
NM_194255.4
p.I48F
c.142A>T
1 paper
NM_194255.4
p.P50P
c.150C>T
2 papers
NM_194255.4
p.S46I
c.137G>T
6 papers
NM_194255.4
p.S46N
c.137G>A
1 paper
NM_194255.4
p.E45D
c.135G>T
1 paper
NM_194255.4
p.E45D
c.135G>C
2 papers
NM_194255.4
p.E45A
c.134A>C
1 paper
NM_194255.4
p.E45Q
c.133G>C
8 papers
NM_194255.4
p.E45K
c.133G>A
1 paper
NM_194255.4
p.L53L
c.157C>T
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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."