Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A3
Variant:p.I74M

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.I74M
c.222C>G
Surrounding Variants
4 papers
NM_033409.4
p.I75T
c.224T>C
5 papers
NM_033409.4
p.E71*
c.211G>T
7 papers
NM_033409.4
p.E71K
c.211G>A
1 paper
NM_033409.4
p.G80D
c.239G>A
1 paper
NM_033409.4
p.V84I
c.250G>A
1 paper
NM_033409.4
p.C86Y
c.257G>A
3 papers
NM_033409.4
p.V58D
c.173T>A
1 paper
NM_033409.4
p.L57P
c.170T>C
1 paper
NM_033409.4
p.G54E
c.161G>A
4 papers
NM_033409.4
p.G54R
c.160G>C
4 papers
NM_033409.4
p.G54R
c.160G>A
1 paper
NM_033409.4
p.I53S
c.158T>G
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