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

3 papers

NM_001363118.2

p.W379del1

c.1135_1137delTGG

Surrounding Variants

1 paper

NM_001363118.2

p.C382delFs

c.1146delT

1 paper

NM_001363118.2

p.L383del1

c.1147_1149delCTT

1 paper

NM_001363118.2

p.K390delFs

c.1168_1169delAA

1 paper

NM_001363118.2

p.K390fs

c.1168_1169fs

1 paper

NM_001363118.2

p.K390R

c.1169A>G

1 paper

NM_001363118.2

p.G399_G400Fs

c.1197_1198delinsTFs

1 paper

NM_001363118.2

p.I412V

c.1234A>G

1 paper

NM_001363118.2

p.L374del1

c.1120_1122delCTC

1 paper

NM_001363118.2

p.G415A

c.1244G>C

2 papers

NM_001363118.2

p.G415G

c.1245C>T

1 paper

NM_001363118.2

p.S416F

c.1247C>T

1 paper

NM_001363118.2

p.L417P

c.1250T>C