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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC52A1

SLC52A1

109 papers

RefSeq Summary

Biological redox reactions require electron donors and acceptor. Vitamin B2 is the source for the flavin in flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) which are common redox rea...

Pfam Domains

SLC52_ribofla_traa 8–438UCSCSolute carrier family 52, riboflavin transporter

Gene Aliases

HGNC Name

solute carrier family 52 member 1

HGNC Previous Symbol

GPR172B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 106 variants

4 papers

chr17:5034280 T>C

NM_017986.4

p.Q70R

c.209A>G

SLC52_ribofla_tr

Exome: 94.9% (AC=1382492, hom=656957)Genome: 95.1% (AC=144847, hom=68957)10 overlapping SVs

4 papers

chr17:5033250 C>T

NM_017986.4

p.V378_V379Splc

c.1134+11G>A

Exome: 0.3% (AC=4815, hom=15)Genome: 0.2% (AC=324, hom=0)10 overlapping SVs

3 papers

chr17:5034515 C>G

NM_017986.4

p.W31S

c.92G>C

SLC52_ribofla_tr

exact variant not in gnomAD10 overlapping SVs

3 papers

chr17:5033603 C>T

NM_017986.4

p.V296M

c.886G>A

SLC52_ribofla_tr

Exome: 20.3% (AC=297155, hom=37007)Genome: 19.2% (AC=29223, hom=3499)10 overlapping SVs

3 papers

chr17:5033379 A>G

NM_017986.4

p.L339P

c.1016T>C

SLC52_ribofla_tr

exact variant not in gnomAD10 overlapping SVs

2 papers

chr17:5034281 G>A

NM_017986.4

p.Q70*

c.208C>T

SLC52_ribofla_tr

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=3, hom=0)10 overlapping SVs

2 papers

chr17:5034130 A>G

NM_017986.4

p.V120A

c.359T>C

SLC52_ribofla_tr

exact variant not in gnomAD10 overlapping SVs

2 papers

chr17:5033984 G>A

NM_017986.4

p.R169C

c.505C>T

SLC52_ribofla_tr

Exome: 0.0% (AC=131, hom=0)Genome: 0.0% (AC=11, hom=0)10 overlapping SVs

2 papers

chr17:5033677 G>A

NM_017986.4

p.A271V

c.812C>T

SLC52_ribofla_tr

Exome: 63.2% (AC=923282, hom=299408)Genome: 64.6% (AC=98234, hom=32708)10 overlapping SVs

2 papers

chr17:5033560 C>T

NM_017986.4

p.R310H

c.929G>A

SLC52_ribofla_tr

Exome: 0.1% (AC=1251, hom=14)Genome: 0.8% (AC=1186, hom=15)10 overlapping SVs

2 papers

chr17:5033066 A>G

NM_017986.4

p.V413A

c.1238T>C

SLC52_ribofla_tr

exact variant not in gnomAD10 overlapping SVs

2 papers

chr17:5033064 C>T

NM_017986.4

p.A414T

c.1240G>A

SLC52_ribofla_tr

Exome: 0.0% (AC=230, hom=0)Genome: 0.0% (AC=11, hom=0)10 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."