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

1–12 of 184 variants

28 papers

NM_001363118.2

p.G306R

c.916G>A

27 papers

NM_001363118.2

p.G306R

c.916G>C

19 papers

NM_001363118.2

p.L339P

c.1016T>C

11 papers

NM_001363118.2

p.S52F

c.155C>T

11 papers

NM_001363118.2

p.L312P

c.935T>C

9 papers

NM_001363118.2

p.G419S

c.1255G>A

8 papers

NM_001363118.2

p.S128L

c.383C>T

8 papers

NM_001363118.2

p.R169C

c.505C>T

8 papers

NM_001363118.2

p.Q270*

c.808C>T

8 papers

NM_001363118.2

p.A420T

c.1258G>A

7 papers

NM_001363118.2

p.W31S

c.92G>C

6 papers

NM_001363118.2

p.L123P

c.368T>C