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

4 papers

NM_001363118.2

p.K39R

c.116A>G

Surrounding Variants

1 paper

NM_001363118.2

p.K39N

c.117A>T

1 paper

NM_001363118.2

p.E40A

c.119A>C

1 paper

NM_001363118.2

p.P42A

c.124C>G

2 papers

NM_001363118.2

p.V36M

c.106G>A

2 papers

NM_001363118.2

p.P35S

c.103C>T

1 paper

NM_001363118.2

p.E33Fs

c.97_98delinsCFs

7 papers

NM_001363118.2

p.W31S

c.92G>C

1 paper

NM_001363118.2

p.I30N

c.89T>A

2 papers

NM_001363118.2

p.N28S

c.83A>G

1 paper

NM_001363118.2

p.A26S

c.76G>T

2 papers

NM_001363118.2

p.A26fs

c.76_77fs

1 paper

NM_001363118.2

p.A25_A26insFs

c.75_76ins5