Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.Y328delFs

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.Y328delFs
c.982delA
Surrounding Variants
2 papers
NM_006996.3
p.R327H
c.980G>A
1 paper
NM_006996.3
p.R327C
c.979C>T
1 paper
NM_006996.3
p.S326F
c.977C>T
1 paper
NM_006996.3
p.K322_P325del4
c.964_974del12
1 paper
NM_006996.3
p.M324_A330del7
c.970_989del21
3 papers
NM_006996.3
p.I331_Y332insFs
c.993_996dup4
1 paper
NM_006996.3
p.N333fs
c.997_998fs
10 papers
NM_006996.3
p.G334D
c.1001G>A
2 papers
NM_006996.3
p.G335S
c.1003G>A
8 papers
NM_006996.3
p.R327_G334del8
c.979_1001del24
1 paper
NM_006996.3
p.G335D
c.1004G>A
1 paper
NM_006996.3
p.A329_G334del6
c.985_1001del18
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