Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.G105_I109delFs

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.G105_I109delFs
c.313_326del14
Surrounding Variants
1 paper
NM_006996.3
p.I109fs
c.325_326fs
1 paper
NM_006996.3
p.L108_I109delFs
c.322_325del4
1 paper
NM_006996.3
p.I109fs
c.325_326fs
1 paper
NM_006996.3
p.T111A
c.331A>G
1 paper
NM_006996.3
p.L108_V110delFs
c.324_330del7
1 paper
NM_006996.3
p.S107N
c.320G>A
1 paper
NM_006996.3
p.V110_W112del0
c.329_334del6
8 papers
NM_006996.3
p.I109_W112delFs
c.327_334del8
1 paper
NM_006996.3
p.W112fs
c.334_335fs
3 papers
NM_006996.3
p.F113L
c.337T>C
1 paper
NM_006996.3
p.W112delFs
c.335delC
1 paper
NM_006996.3
p.G105G
c.315G>C
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