Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.S181P

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
6 papers
NM_006996.3
p.S181P
c.541T>C
Surrounding Variants
1 paper
NM_006996.3
p.S181S
c.543A>T
1 paper
NM_006996.3
p.V180L
c.538G>C
1 paper
NM_006996.3
p.V182M
c.544G>A
1 paper
NM_006996.3
p.I178_L179del0
c.532_537del6
1 paper
NM_006996.3
p.L179delFs
c.535delG
1 paper
NM_006996.3
p.A183delFs
c.547delC
1 paper
NM_006996.3
p.G184delFs
c.550delC
1 paper
NM_006996.3
p.W185*
c.554G>A
1 paper
NM_006996.3
p.W185*
c.555G>A
1 paper
NM_006996.3
p.F188L
c.562T>C
1 paper
NM_006996.3
p.F188L
c.564C>G
1 paper
NM_006996.3
p.F188L
c.564C>A
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