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

19 papers

NM_001363118.2

p.L339P

c.1016T>C

Surrounding Variants

1 paper

NM_001363118.2

p.G340R

c.1018G>C

1 paper

NM_001363118.2

p.G341fs

c.1021_1022fs

2 papers

NM_001363118.2

p.G341insFs

c.1022_1023insC

4 papers

NM_001363118.2

p.L344delFs

c.1030_1031delCT

1 paper

NM_001363118.2

p.A337T

c.1009G>A

1 paper

NM_001363118.2

p.L342fs

c.1024_1025fs

1 paper

NM_001363118.2

p.S335T

c.1003T>A

1 paper

NM_001363118.2

p.L344fs

c.1030_1031fs

1 paper

NM_001363118.2

p.F348L

c.1042T>C

1 paper

NM_001363118.2

p.M354T

c.1061T>C

4 papers

NM_001363118.2

p.P363L

c.1088C>T

1 paper

NM_001363118.2

p.L374del1

c.1120_1122delCTC