Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.W283*

SLC19A2

249 papers

RefSeq Summary

This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabe...

Pfam Domains

Folate_carrieraa 28–458UCSCReduced folate carrier

Gene Aliases

HGNC Name

solute carrier family 19 member 2

HGNC Previous Symbol

TRMA

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006996.3
p.W283*
c.848G>A
Surrounding Variants
1 paper
NM_006996.3
p.W283*
c.849G>A
1 paper
NM_006996.3
p.V281L
c.841G>T
1 paper
NM_006996.3
p.V281L
c.841G>C
1 paper
NM_006996.3
p.D285delFs
c.855delA
2 papers
NM_006996.3
p.V278A
c.833T>C
1 paper
NM_006996.3
p.R275L
c.824G>T
1 paper
NM_006996.3
p.R275C
c.823C>T
1 paper
NM_006996.3
p.S291S
c.873C>A
1 paper
NM_006996.3
p.S291insFs
c.872dupC
1 paper
NM_006996.3
p.P273delFs
c.818delG
1 paper
NM_006996.3
p.R293L
c.878G>T
1 paper
NM_006996.3
p.R293insFs
c.877dupC
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