Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A3
Variant:p.S411S

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
4 papers
NM_033409.4
p.S411S
c.1233T>C
Surrounding Variants
9 papers
NM_033409.4
p.V413A
c.1238T>C
1 paper
NM_033409.4
p.G408D
c.1223G>A
1 paper
NM_033409.4
p.M416V
c.1246A>G
1 paper
NM_033409.4
p.G418D
c.1253G>A
3 papers
NM_033409.4
p.V419M
c.1255G>A
1 paper
NM_033409.4
p.A401_S402insFs
c.1203_1204insT
1 paper
NM_033409.4
p.R422C
c.1264C>T
5 papers
NM_033409.4
p.I399_V400Splc
c.1198-2A>C
1 paper
NM_033409.4
p.W431R
c.1291T>C
2 papers
NM_033409.4
p.W431*
c.1292G>A
1 paper
NM_033409.4
p.W431*
c.1293G>A
2 papers
NM_033409.4
p.C432*
c.1296C>A
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