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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC52A3

Variant:p.V99A

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

Selected Variant

1 paper

chr20:765479 A>G

NM_033409.4

p.V99A

c.296T>C

SLC52_ribofla_tr

exact variant not in gnomAD11 overlapping SVs

Surrounding Variants

3 papers

chr20:765454 G>A

NM_033409.4

p.A107A

c.321C>T

SLC52_ribofla_tr

Exome: 30.6% (AC=446195, hom=70011)Genome: 26.9% (AC=40909, hom=6025)11 overlapping SVs

1 paper

chr20:765451 G>A

NM_033409.4

p.F108F

c.324C>T

SLC52_ribofla_tr

exact variant not in gnomAD11 overlapping SVs

1 paper

chr20:765518 C>T

NM_033409.4

p.C86Y

c.257G>A

SLC52_ribofla_tr

exact variant not in gnomAD11 overlapping SVs

1 paper

chr20:765436 G>A

NM_033409.4

p.F113F

c.339C>T

SLC52_ribofla_tr

Exome: 0.1% (AC=1677, hom=2)Genome: 0.1% (AC=116, hom=1)11 overlapping SVs

1 paper

chr20:765525 C>T

NM_033409.4

p.V84I

c.250G>A

SLC52_ribofla_tr

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=3, hom=0)11 overlapping SVs

1 paper

chr20:765431 A>C

NM_033409.4

p.L115R

c.344T>G

SLC52_ribofla_tr

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

1 paper

chr20:765426 G>C

NM_033409.4

p.L117V

c.349C>G

SLC52_ribofla_tr

exact variant not in gnomAD11 overlapping SVs

1 paper

chr20:765536 C>T

NM_033409.4

p.G80D

c.239G>A

SLC52_ribofla_tr

Exome: 0.0% (AC=1, hom=0)Genome: n/a11 overlapping SVs

4 papers

chr20:765551 A>G

NM_033409.4

p.I75T

c.224T>C

SLC52_ribofla_tr

Exome: 0.0% (AC=16, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr20:765553 G>C

NM_033409.4

p.I74M

c.222C>G

SLC52_ribofla_tr

Exome: 9.1% (AC=129586, hom=6489)Genome: 6.3% (AC=9572, hom=390)11 overlapping SVs

3 papers

chr20:765401 G>T

NM_033409.4

p.T125N

c.374C>A

SLC52_ribofla_tr

Exome: 0.0% (AC=98, hom=0)Genome: 0.0% (AC=6, hom=0)11 overlapping SVs

5 papers

chr20:765564 C>A

NM_033409.4

p.E71*

c.211G>T

SLC52_ribofla_tr

Exome: 0.0% (AC=1, hom=0)Genome: n/a11 overlapping SVs

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