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.V164V

c.492G>A

Surrounding Variants

1 paper

NM_001363118.2

p.A162G

c.485C>G

8 papers

NM_001363118.2

p.R169C

c.505C>T

2 papers

NM_001363118.2

p.C159W

c.477C>G

1 paper

NM_001363118.2

p.P158S

c.472C>T

1 paper

NM_001363118.2

p.A155S

c.463G>T

1 paper

NM_001363118.2

p.A155delFs

c.465delC

1 paper

NM_001363118.2

p.L153L

c.457C>T

1 paper

NM_001363118.2

p.L149P

c.446T>C

1 paper

NM_001363118.2

p.G182S

c.544G>A

1 paper

NM_001363118.2

p.P183T

c.547C>A

1 paper

NM_001363118.2

p.P183R

c.548C>G

1 paper

NM_001363118.2

p.D186A

c.557A>C