Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.N228D

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.N228D
c.682A>G
Surrounding Variants
1 paper
NM_006996.3
p.R226_V227delins
c.678_679delinsCA
3 papers
NM_006996.3
p.I230F
c.688A>T
17 papers
NM_006996.3
p.Q233*
c.697C>T
1 paper
NM_006996.3
p.Q212_I220delFs
c.635_660del26
2 papers
NM_006996.3
p.I220L
c.658A>C
4 papers
NM_006996.3
p.H219R
c.656A>G
2 papers
NM_006996.3
p.H219Y
c.655C>T
1 paper
NM_006996.3
p.I237V
c.709A>G
1 paper
NM_006996.3
p.G236_I237Fs
c.708_709delinsTFs
1 paper
NM_006996.3
p.H218Y
c.652C>T
1 paper
NM_006996.3
p.T239_D240insA
c.715_719ins3
1 paper
NM_006996.3
p.F216Y
c.647T>A
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