Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.W320_E321Fs

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.W320_E321Fs
c.958_961delinsTCCFs
Surrounding Variants
1 paper
NM_006996.3
p.L319_W320delFs
c.956_960del5
1 paper
NM_006996.3
p.W320_E321Fs
c.958_962delinsTCCFs
4 papers
NM_006996.3
p.W320G
c.958T>G
1 paper
NM_006996.3
p.W320R
c.958T>C
1 paper
NM_006996.3
p.G318S
c.952G>A
1 paper
NM_006996.3
p.K322_P325del4
c.964_974del12
1 paper
NM_006996.3
p.S326F
c.977C>T
1 paper
NM_006996.3
p.R327C
c.979C>T
2 papers
NM_006996.3
p.R327H
c.980G>A
1 paper
NM_006996.3
p.V313delFs
c.939delC
1 paper
NM_006996.3
p.Y328delFs
c.982delA
1 paper
NM_006996.3
p.M324_A330del7
c.970_989del21
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