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.L417P

c.1250T>C

Surrounding Variants

1 paper

NM_001363118.2

p.S416F

c.1247C>T

2 papers

NM_001363118.2

p.G415G

c.1245C>T

9 papers

NM_001363118.2

p.G419S

c.1255G>A

1 paper

NM_001363118.2

p.G415A

c.1244G>C

8 papers

NM_001363118.2

p.A420T

c.1258G>A

1 paper

NM_001363118.2

p.I412V

c.1234A>G

1 paper

NM_001363118.2

p.M423V

c.1267A>G

1 paper

NM_001363118.2

p.F424S

c.1271T>C

1 paper

NM_001363118.2

p.V432M

c.1294G>A

2 papers

NM_001363118.2

p.H434Y

c.1300C>T

1 paper

NM_001363118.2

p.G399_G400Fs

c.1197_1198delinsTFs

1 paper

NM_001363118.2

p.D438E

c.1314C>A