Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.S45_R47del3

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.S45_R47del3
c.133_140del9
Surrounding Variants
1 paper
NM_006996.3
p.R47_P48insGGC
c.139_143ins9
1 paper
NM_006996.3
p.R47_P48ins6
c.139_143ins18
2 papers
NM_006996.3
p.L46P
c.137T>C
1 paper
NM_006996.3
p.E50A
c.149A>C
1 paper
NM_006996.3
p.E50delFs
c.149delT
1 paper
NM_006996.3
p.S45fs
c.133_134fs
8 papers
NM_006996.3
p.P51L
c.152C>T
1 paper
NM_006996.3
p.A44T
c.130G>A
1 paper
NM_006996.3
p.P51_F52delFs
c.153_154delAG
1 paper
NM_006996.3
p.S45_F52delFs
c.135_154del20
1 paper
NM_006996.3
p.F52F
c.156C>T
1 paper
NM_006996.3
p.T54I
c.161C>T
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