Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.L247delFs

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.L247delFs
c.740_741delAA
Surrounding Variants
1 paper
NM_006996.3
p.G236_H246del11
c.706_737del33
5 papers
NM_006996.3
p.W250*
c.749G>A
6 papers
NM_006996.3
p.W250*
c.750G>A
1 paper
NM_006996.3
p.W250delFs
c.749_750delCC
1 paper
NM_006996.3
p.A243G
c.728C>G
1 paper
NM_006996.3
p.I253fs
c.757_758fs
1 paper
NM_006996.3
p.A243fs
c.727_728fs
1 paper
NM_006996.3
p.P242insFs
c.726dupA
1 paper
NM_006996.3
p.T241_P242del2
c.721_725del6
1 paper
NM_006996.3
p.Q233_P242del10
c.697_725del30
1 paper
NM_006996.3
p.I253delFs
c.757delT
1 paper
NM_006996.3
p.P242insFs
c.725dupC
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