Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A3
Variant:p.W17R

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
9 papers
NM_033409.4
p.W17R
c.49T>C
Surrounding Variants
8 papers
NM_033409.4
p.W17R
c.49T>A
1 paper
NM_033409.4
p.T19I
c.56C>T
2 papers
NM_033409.4
p.I20L
c.58A>C
2 papers
NM_033409.4
p.G13R
c.37G>C
2 papers
NM_033409.4
p.G13R
c.37G>A
11 papers
NM_033409.4
p.N21S
c.62A>G
3 papers
NM_033409.4
p.W24*
c.71G>A
3 papers
NM_033409.4
p.W24*
c.72G>A
2 papers
NM_033409.4
p.H6_L7ins3
c.18_19ins9
2 papers
NM_033409.4
p.H6delFs
c.16delG
6 papers
NM_033409.4
p.P28T
c.82C>A
2 papers
NM_033409.4
p.M5_H6ins3
c.15_16ins9
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."