Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.Q233*

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
17 papers
NM_006996.3
p.Q233*
c.697C>T
Surrounding Variants
3 papers
NM_006996.3
p.I230F
c.688A>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.N228D
c.682A>G
1 paper
NM_006996.3
p.R226_V227delins
c.678_679delinsCA
1 paper
NM_006996.3
p.T239_D240insA
c.715_719ins3
1 paper
NM_006996.3
p.T241_P242insA
c.721_725ins3
2 papers
NM_006996.3
p.P242_A243insA
c.724_728ins3
1 paper
NM_006996.3
p.P242fs
c.724_725fs
1 paper
NM_006996.3
p.P242insFs
c.725dupC
7 papers
NM_006996.3
p.P242delFs
c.724delG
1 paper
NM_006996.3
p.A243fs
c.727_728fs
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