Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.G172V

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.G172V
c.515G>T
Surrounding Variants
2 papers
NM_006996.3
p.G172A
c.515G>C
24 papers
NM_006996.3
p.G172D
c.515G>A
4 papers
NM_006996.3
p.G172R
c.514G>C
1 paper
NM_006996.3
p.V171delFs
c.513delC
1 paper
NM_006996.3
p.G172delFs
c.516delG
3 papers
NM_006996.3
p.T170P
c.508A>C
1 paper
NM_006996.3
p.L179delFs
c.535delG
1 paper
NM_006996.3
p.V180L
c.538G>C
1 paper
NM_006996.3
p.I178_L179del0
c.532_537del6
6 papers
NM_006996.3
p.S181P
c.541T>C
2 papers
NM_006996.3
p.S163C
c.487A>T
1 paper
NM_006996.3
p.S181S
c.543A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."