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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC19A1

Variant:p.H27R

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

145 papers

chr21:45537880 T>C

NM_194255.4

p.H27R

c.80A>G

Folate_carrier

Exome: 56.0% (AC=811122, hom=228513)Genome: 51.8% (AC=78718, hom=20951)9 overlapping SVs

Surrounding Variants

3 papers

chr21:45537880 T>G

NM_194255.4

p.H27P

c.80A>C

Folate_carrier

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr21:45537881 G>A

NM_194255.4

p.H27Y

c.79C>T

Folate_carrier

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

1 paper

chr21:45537878 G>A

NM_194255.4

p.L28F

c.82C>T

Folate_carrier

Exome: 0.0% (AC=0, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr21:45537885 C>A

NM_194255.4

p.W25C

c.75G>T

Folate_carrier

Exome: 0.0% (AC=0, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr21:45537885 C>G

NM_194255.4

p.W25C

c.75G>C

Folate_carrier

exact variant not in gnomAD9 overlapping SVs

1 paper

chr21:45537887 A>G

NM_194255.4

p.W25R

c.73T>C

Folate_carrier

Exome: 0.0% (AC=0, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr21:45537872 A>G

NM_194255.4

p.C30R

c.88T>C

Folate_carrier

Exome: 0.0% (AC=0, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr21:45537872 A>T

NM_194255.4

p.C30S

c.88T>A

Folate_carrier

exact variant not in gnomAD9 overlapping SVs

1 paper

chr21:45537871 C>G

NM_194255.4

p.C30S

c.89G>C

Folate_carrier

exact variant not in gnomAD9 overlapping SVs

1 paper

chr21:45537890 ACCG>A

NM_194255.4

p.R23del1

c.67_68delCCG

Folate_carrier

exact variant not in gnomAD9 overlapping SVs

1 paper

chr21:45537870 G>A

NM_194255.4

p.C30C

c.90C>T

Folate_carrier

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr21:45537892 C>T

NM_194255.4

p.R23Q

c.68G>A

Folate_carrier

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

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