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

1 paper

NM_001363118.2

p.A206S

c.616G>T

Surrounding Variants

1 paper

NM_001363118.2

p.A206V

c.617C>T

1 paper

NM_001363118.2

p.A209T

c.625G>A

1 paper

NM_001363118.2

p.A210T

c.628G>A

1 paper

NM_001363118.2

p.A210V

c.629C>T

1 paper

NM_001363118.2

p.Q212*

c.634C>T

4 papers

NM_001363118.2

p.W198*

c.594G>A

5 papers

NM_001363118.2

p.W198*

c.593G>A

1 paper

NM_001363118.2

p.A199delFs

c.595delG

1 paper

NM_001363118.2

p.F196L

c.588C>A

2 papers

NM_001363118.2

p.F196L

c.588C>G

1 paper

NM_001363118.2

p.F196L

c.586T>C

1 paper

NM_001363118.2

p.S194_T195insFs

c.582_583insTA