Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.V25insFs

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
4 papers
NM_006996.3
p.V25insFs
c.74dupT
Surrounding Variants
1 paper
NM_006996.3
p.R24delFs
c.72delC
1 paper
NM_006996.3
p.R26C
c.76C>T
1 paper
NM_006996.3
p.V25F
c.73G>T
1 paper
NM_006996.3
p.R24L
c.71G>T
1 paper
NM_006996.3
p.R24P
c.71G>C
2 papers
NM_006996.3
p.T22_R24delFs
c.64_70del7
1 paper
NM_006996.3
p.R27H
c.80G>A
1 paper
NM_006996.3
p.R24G
c.70C>G
1 paper
NM_006996.3
p.E28*
c.82G>T
1 paper
NM_006996.3
p.E28G
c.83A>G
2 papers
NM_006996.3
p.R27_E28insFs
c.81_82dupCG
1 paper
NM_006996.3
p.E28insFs
c.82_83insGA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."