Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A3
Variant:p.G330V

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
2 papers
NM_033409.4
p.G330V
c.989G>T
Surrounding Variants
1 paper
NM_033409.4
p.H335Y
c.1003C>T
1 paper
NM_033409.4
p.Y324C
c.971A>G
1 paper
NM_033409.4
p.Q322H
c.966G>T
1 paper
NM_033409.4
p.Q322H
c.966G>C
3 papers
NM_033409.4
p.P319S
c.955C>T
1 paper
NM_033409.4
p.L318Q
c.953T>A
1 paper
NM_033409.4
p.A344delFs
c.1030_1031delGC
1 paper
NM_033409.4
p.N315N
c.945C>T
1 paper
NM_033409.4
p.N315S
c.944A>G
1 paper
NM_033409.4
p.P346S
c.1036C>T
1 paper
NM_033409.4
p.T314A
c.940A>G
6 papers
NM_033409.4
p.A312V
c.935C>T
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