Varaico: Literature-Extracted Genetic Variants

SLC52A2

276 papers

RefSeq Summary

This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. T...

Pfam Domains

SLC52_ribofla_traa 8–54UCSCSolute carrier family 52, riboflavin transporter

SLC52_ribofla_traa 8–435UCSCSolute carrier family 52, riboflavin transporter

Gene Aliases

HGNC Name

solute carrier family 52 member 2

HGNC Previous Symbol

GPR172A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001363118.2

p.L289L

c.865C>T

Surrounding Variants

2 papers

NM_001363118.2

p.A288V

c.863C>T

1 paper

NM_001363118.2

p.T286S

c.857C>G

1 paper

NM_001363118.2

p.T286S

c.856A>T

1 paper

NM_001363118.2

p.G292delFs

c.876delC

1 paper

NM_001363118.2

p.A285T

c.853G>A

3 papers

NM_001363118.2

p.A284D

c.851C>A

1 paper

NM_001363118.2

p.V293V

c.879G>A

1 paper

NM_001363118.2

p.L282fs

c.844_845fs

1 paper

NM_001363118.2

p.G281delFs

c.843delC

1 paper

NM_001363118.2

p.V297M

c.889G>A

1 paper

NM_001363118.2

p.S299N

c.896G>A

1 paper

NM_001363118.2

p.C278ins3

c.833_834ins9