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

11 papers

NM_001363118.2

p.L312P

c.935T>C

Surrounding Variants

1 paper

NM_001363118.2

p.L312_V314del0

c.934_942del9

2 papers

NM_001363118.2

p.V314M

c.940G>A

1 paper

NM_001363118.2

p.A309V

c.926C>T

1 paper

NM_001363118.2

p.A309delFs

c.926delC

1 paper

NM_001363118.2

p.G317A

c.950G>C

3 papers

NM_001363118.2

p.G306E

c.917G>A

28 papers

NM_001363118.2

p.G306R

c.916G>A

27 papers

NM_001363118.2

p.G306R

c.916G>C

5 papers

NM_001363118.2

p.Y305C

c.914A>G

3 papers

NM_001363118.2

p.L323P

c.968T>C

4 papers

NM_001363118.2

p.C325G

c.973T>G

1 paper

NM_001363118.2

p.S299N

c.896G>A