Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A3
Variant:p.L117V

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.L117V
c.349C>G
Surrounding Variants
1 paper
NM_033409.4
p.L115R
c.344T>G
1 paper
NM_033409.4
p.F113F
c.339C>T
1 paper
NM_033409.4
p.F108F
c.324C>T
3 papers
NM_033409.4
p.T125N
c.374C>A
3 papers
NM_033409.4
p.A107A
c.321C>T
1 paper
NM_033409.4
p.P128P
c.384G>A
1 paper
NM_033409.4
p.F129I
c.385T>A
8 papers
NM_033409.4
p.R132W
c.394C>T
1 paper
NM_033409.4
p.V99A
c.296T>C
2 papers
NM_033409.4
p.T135A
c.403A>G
1 paper
NM_033409.4
p.Y136F
c.407A>T
1 paper
NM_033409.4
p.Y137F
c.410A>T
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