Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.Y79*

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.Y79*
c.237C>A
Surrounding Variants
2 papers
NM_006996.3
p.Y79*
c.237C>G
4 papers
NM_006996.3
p.S80insFs
c.239_240insA
1 paper
NM_006996.3
p.Y81insFs
c.241_242insA
1 paper
NM_006996.3
p.W77*
c.231G>A
12 papers
NM_006996.3
p.Y81*
c.243C>G
19 papers
NM_006996.3
p.Y81insFs
c.242_243insA
12 papers
NM_006996.3
p.Y81*
c.243C>A
1 paper
NM_006996.3
p.W77*
c.230G>A
1 paper
NM_006996.3
p.L82_V83insGA
c.244_248ins6
1 paper
NM_006996.3
p.Y79_L82delFs
c.236_246del11
1 paper
NM_006996.3
p.P75insFs
c.224dupC
1 paper
NM_006996.3
p.L84L
c.250C>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."