Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.H219Y

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
2 papers
NM_006996.3
p.H219Y
c.655C>T
Surrounding Variants
4 papers
NM_006996.3
p.H219R
c.656A>G
1 paper
NM_006996.3
p.H218Y
c.652C>T
2 papers
NM_006996.3
p.I220L
c.658A>C
1 paper
NM_006996.3
p.Q212_I220delFs
c.635_660del26
1 paper
NM_006996.3
p.F216Y
c.647T>A
2 papers
NM_006996.3
p.S214fs
c.640_641fs
4 papers
NM_006996.3
p.S214delFs
c.641delC
1 paper
NM_006996.3
p.K213M
c.638A>T
1 paper
NM_006996.3
p.K213Q
c.637A>C
1 paper
NM_006996.3
p.Q212H
c.636G>T
1 paper
NM_006996.3
p.R226_V227delins
c.678_679delinsCA
1 paper
NM_006996.3
p.N228D
c.682A>G
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