Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A3
Variant:p.T278M

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
8 papers
NM_033409.4
p.T278M
c.833C>T
Surrounding Variants
1 paper
NM_033409.4
p.L273_G274Fs
c.819_821delinsGFs
1 paper
NM_033409.4
p.E270Q
c.808G>C
1 paper
NM_033409.4
p.R268W
c.802C>T
1 paper
NM_033409.4
p.E289Q
c.865G>C
9 papers
NM_033409.4
p.P267L
c.800C>T
1 paper
NM_033409.4
p.E290K
c.868G>A
3 papers
NM_033409.4
p.R266W
c.796C>T
1 paper
NM_033409.4
p.C295*
c.885C>A
2 papers
NM_033409.4
p.N257S
c.770A>G
1 paper
NM_033409.4
p.A301S
c.901G>T
4 papers
NM_033409.4
p.L255L
c.765C>T
8 papers
NM_033409.4
p.I303V
c.907A>G
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