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.A56V

c.167C>T

Surrounding Variants

3 papers

NM_001363118.2

p.V55L

c.163G>C

3 papers

NM_001363118.2

p.V55L

c.163G>T

1 paper

NM_001363118.2

p.V53G

c.158T>G

11 papers

NM_001363118.2

p.S52F

c.155C>T

1 paper

NM_001363118.2

p.S52T

c.154T>A

1 paper

NM_001363118.2

p.V51I

c.151G>A

1 paper

NM_001363118.2

p.Y50*

c.150C>A

1 paper

NM_001363118.2

p.Y50*

c.150C>G

2 papers

NM_001363118.2

p.L62R

c.185T>G

1 paper

NM_001363118.2

p.Y50insFs

c.149dupA

1 paper

NM_001363118.2

p.Y50fs

c.148_149fs

1 paper

NM_001363118.2

p.Y50insFs

c.148dupT