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.S128S

c.384G>A

Surrounding Variants

1 paper

NM_001363118.2

p.S128*

c.383C>A

8 papers

NM_001363118.2

p.S128L

c.383C>T

1 paper

NM_001363118.2

p.V130V

c.390C>G

1 paper

NM_001363118.2

p.C126Y

c.377G>A

6 papers

NM_001363118.2

p.L123P

c.368T>C

4 papers

NM_001363118.2

p.P134L

c.401C>T

3 papers

NM_001363118.2

p.F135_L136del1

c.405_407delCTT

1 paper

NM_001363118.2

p.V120A

c.359T>C

2 papers

NM_001363118.2

p.A118D

c.353C>A

3 papers

NM_001363118.2

p.L117P

c.350T>C

1 paper

NM_001363118.2

p.P140L

c.419C>T

4 papers

NM_001363118.2

p.P140P

c.420A>T