Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.G41delFs

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.G41delFs
c.122delC
Surrounding Variants
1 paper
NM_006996.3
p.G41insFs
c.121dupG
6 papers
NM_006996.3
p.G41R
c.121G>C
2 papers
NM_006996.3
p.G41S
c.121G>A
1 paper
NM_006996.3
p.A44T
c.130G>A
1 paper
NM_006996.3
p.A39delFs
c.115delC
1 paper
NM_006996.3
p.S45fs
c.133_134fs
2 papers
NM_006996.3
p.L46P
c.137T>C
1 paper
NM_006996.3
p.L37F
c.109C>T
1 paper
NM_006996.3
p.R47_P48insGGC
c.139_143ins9
1 paper
NM_006996.3
p.R47_P48ins6
c.139_143ins18
1 paper
NM_006996.3
p.S45_R47del3
c.133_140del9
1 paper
NM_006996.3
p.T34I
c.101C>T
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