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

2 papers

NM_001363118.2

p.E77E

c.231G>A

Surrounding Variants

1 paper

NM_001363118.2

p.E77A

c.230A>C

4 papers

NM_001363118.2

p.E77K

c.229G>A

1 paper

NM_001363118.2

p.P80insFs

c.238_239insG

1 paper

NM_001363118.2

p.K75_D76ins5

c.223_227ins15

1 paper

NM_001363118.2

p.V84M

c.250G>A

1 paper

NM_001363118.2

p.W68*

c.203G>A

2 papers

NM_001363118.2

p.L62R

c.185T>G

1 paper

NM_001363118.2

p.L98delFs

c.292_293delCT

1 paper

NM_001363118.2

p.L98L

c.292C>T

1 paper

NM_001363118.2

p.A56V

c.167C>T

1 paper

NM_001363118.2

p.W99C

c.297G>C

1 paper

NM_001363118.2

p.W99C

c.297G>T