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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC52A3

SLC52A3

150 papers

RefSeq Summary

This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven t...

Pfam Domains

SLC52_ribofla_traa 1–459UCSCSolute carrier family 52, riboflavin transporter

Gene Aliases

HGNC Name

solute carrier family 52 member 3

HGNC Previous Symbol

C20orf54

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 149 variants

15 papers

chr20:763932 G>C

NM_033409.4

p.Y213*

c.639C>G

SLC52_ribofla_tr

Exome: 0.0% (AC=116, hom=0)Genome: 0.0% (AC=7, hom=0)11 overlapping SVs

14 papers

chr20:763932 G>T

NM_033409.4

p.Y213*

c.639C>A

SLC52_ribofla_tr

exact variant not in gnomAD11 overlapping SVs

11 papers

chr20:765713 T>C

NM_033409.4

p.N21S

c.62A>G

SLC52_ribofla_tr

Exome: 0.0% (AC=194, hom=0)Genome: 0.0% (AC=9, hom=0)11 overlapping SVs

10 papers

chr20:761067 A>G

NM_033409.4

p.F457L

c.1369T>C

SLC52_ribofla_tr

Exome: 0.0% (AC=2, hom=0)Genome: n/a11 overlapping SVs

10 papers

chr20:761065 G>C

NM_033409.4

p.F457L

c.1371C>G

SLC52_ribofla_tr

Exome: 0.1% (AC=1011, hom=3)Genome: 0.0% (AC=69, hom=0)11 overlapping SVs

10 papers

chr20:761065 G>T

NM_033409.4

p.F457L

c.1371C>A

SLC52_ribofla_tr

Exome: 0.0% (AC=0, hom=0)Genome: n/a11 overlapping SVs

9 papers

chr20:765726 A>G

NM_033409.4

p.W17R

c.49T>C

SLC52_ribofla_tr

exact variant not in gnomAD11 overlapping SVs

9 papers

chr20:763771 G>A

NM_033409.4

p.P267L

c.800C>T

SLC52_ribofla_tr

Exome: 21.3% (AC=311303, hom=34136)Genome: 18.8% (AC=28551, hom=2817)11 overlapping SVs

9 papers

chr20:761198 A>G

NM_033409.4

p.V413A

c.1238T>C

SLC52_ribofla_tr

Exome: 0.0% (AC=57, hom=0)Genome: 0.0% (AC=4, hom=0)12 overlapping SVs

8 papers

chr20:765726 A>T

NM_033409.4

p.W17R

c.49T>A

SLC52_ribofla_tr

exact variant not in gnomAD11 overlapping SVs

8 papers

chr20:765381 G>A

NM_033409.4

p.R132W

c.394C>T

SLC52_ribofla_tr

Exome: 0.0% (AC=42, hom=0)Genome: 0.0% (AC=2, hom=0)11 overlapping SVs

8 papers

chr20:763738 G>A

NM_033409.4

p.T278M

c.833C>T

SLC52_ribofla_tr

Exome: 10.8% (AC=157634, hom=8891)Genome: 9.3% (AC=14176, hom=700)11 overlapping SVs

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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."