Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.P33insFs

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
1 paper
NM_006996.3
p.P33insFs
c.98dupC
Surrounding Variants
2 papers
NM_006996.3
p.P33Q
c.98C>A
1 paper
NM_006996.3
p.T34S
c.100A>T
1 paper
NM_006996.3
p.T34P
c.100A>C
1 paper
NM_006996.3
p.T34I
c.101C>T
1 paper
NM_006996.3
p.T34S
c.101C>G
2 papers
NM_006996.3
p.L32*
c.95T>A
1 paper
NM_006996.3
p.F31L
c.93C>G
2 papers
NM_006996.3
p.F31insFs
c.91dupT
1 paper
NM_006996.3
p.F31L
c.93C>A
1 paper
NM_006996.3
p.W30_F31delFs
c.90_91delAC
3 papers
NM_006996.3
p.F31L
c.91T>C
2 papers
NM_006996.3
p.W30*
c.90G>A
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