Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A3
Variant:p.L221delFs

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
1 paper
NM_033409.4
p.L221delFs
c.662delA
Surrounding Variants
3 papers
NM_033409.4
p.P220H
c.659C>A
7 papers
NM_033409.4
p.F224L
c.670T>C
6 papers
NM_033409.4
p.F224L
c.672C>G
6 papers
NM_033409.4
p.F224L
c.672C>A
1 paper
NM_033409.4
p.A216T
c.646G>A
1 paper
NM_033409.4
p.P215P
c.645C>T
1 paper
NM_033409.4
p.L226_L227del1
c.678_680delAGG
2 papers
NM_033409.4
p.L227del1
c.679_680delTAG
15 papers
NM_033409.4
p.Y213*
c.639C>G
14 papers
NM_033409.4
p.Y213*
c.639C>A
3 papers
NM_033409.4
p.R212C
c.634C>T
1 paper
NM_033409.4
p.L235P
c.704T>C
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."