Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A3
Variant:p.I303V

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
8 papers
NM_033409.4
p.I303V
c.907A>G
Surrounding Variants
1 paper
NM_033409.4
p.A301S
c.901G>T
1 paper
NM_033409.4
p.L306P
c.917T>C
1 paper
NM_033409.4
p.C295*
c.885C>A
1 paper
NM_033409.4
p.N311S
c.932A>G
6 papers
NM_033409.4
p.A312V
c.935C>T
3 papers
NM_033409.4
p.A312E
c.935C>A
1 paper
NM_033409.4
p.T314A
c.940A>G
1 paper
NM_033409.4
p.N315S
c.944A>G
1 paper
NM_033409.4
p.N315N
c.945C>T
1 paper
NM_033409.4
p.E290K
c.868G>A
1 paper
NM_033409.4
p.E289Q
c.865G>C
1 paper
NM_033409.4
p.L318Q
c.953T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."