Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A3
Variant:p.W248fs

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.W248fs
c.742_743fs
Surrounding Variants
1 paper
NM_033409.4
p.W248delFs
c.742delA
1 paper
NM_033409.4
p.A250T
c.748G>A
1 paper
NM_033409.4
p.S251delFs
c.753delG
1 paper
NM_033409.4
p.V252fs
c.754_755fs
1 paper
NM_033409.4
p.R243H
c.728G>A
1 paper
NM_033409.4
p.L241F
c.721C>T
4 papers
NM_033409.4
p.L255L
c.765C>T
2 papers
NM_033409.4
p.N257S
c.770A>G
2 papers
NM_033409.4
p.A237V
c.710C>T
1 paper
NM_033409.4
p.L235P
c.704T>C
3 papers
NM_033409.4
p.R266W
c.796C>T
9 papers
NM_033409.4
p.P267L
c.800C>T
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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."