Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A3
Variant:p.F457L

SLC52A3

150 papers

RefSeq Summary

This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven t...

Pfam Domains

SLC52_ribofla_traa 1–459UCSCSolute carrier family 52, riboflavin transporter

Gene Aliases

HGNC Name

solute carrier family 52 member 3

HGNC Previous Symbol

C20orf54

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_033409.4
p.F457L
c.1371C>A
Surrounding Variants
10 papers
NM_033409.4
p.F457L
c.1371C>G
10 papers
NM_033409.4
p.F457L
c.1369T>C
1 paper
NM_033409.4
p.D461Y
c.1381G>T
1 paper
NM_033409.4
p.G443V
c.1328G>T
1 paper
NM_033409.4
p.L442delFs
c.1325_1326delGA
1 paper
NM_033409.4
p.L442fs
c.1324_1325fs
2 papers
NM_033409.4
p.G439D
c.1316G>A
2 papers
NM_033409.4
p.C432*
c.1296C>A
1 paper
NM_033409.4
p.W431*
c.1293G>A
2 papers
NM_033409.4
p.W431*
c.1292G>A
1 paper
NM_033409.4
p.W431R
c.1291T>C
1 paper
NM_033409.4
p.R422C
c.1264C>T
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