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.Q251*

c.751C>T

Surrounding Variants

1 paper

NM_001363118.2

p.E246K

c.736G>A

1 paper

NM_001363118.2

p.E242A

c.725A>C

1 paper

NM_001363118.2

p.A240E

c.719C>A

1 paper

NM_001363118.2

p.P238_G239insG

c.712_716ins3

1 paper

NM_001363118.2

p.P266S

c.796C>T

3 papers

NM_001363118.2

p.Q234*

c.700C>T

1 paper

NM_001363118.2

p.A268P

c.802G>C

1 paper

NM_001363118.2

p.L233fs

c.697_698fs

2 papers

NM_001363118.2

p.Y269C

c.806A>G

1 paper

NM_001363118.2

p.Q270delFs

c.808_809delCA

8 papers

NM_001363118.2

p.Q270*

c.808C>T

2 papers

NM_001363118.2

p.E228Q

c.682G>C