Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.L103L

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.L103L
c.307C>T
Surrounding Variants
1 paper
NM_006996.3
p.L102delFs
c.305_306delTA
7 papers
NM_006996.3
p.G105E
c.314G>A
1 paper
NM_006996.3
p.G105G
c.315G>C
1 paper
NM_006996.3
p.P99L
c.296C>T
1 paper
NM_006996.3
p.S107N
c.320G>A
1 paper
NM_006996.3
p.Y97N
c.289T>A
1 paper
NM_006996.3
p.I109fs
c.325_326fs
5 papers
NM_006996.3
p.R96delFs
c.287delC
1 paper
NM_006996.3
p.L108_I109delFs
c.322_325del4
1 paper
NM_006996.3
p.I109fs
c.325_326fs
1 paper
NM_006996.3
p.G105_I109delFs
c.313_326del14
1 paper
NM_006996.3
p.R96H
c.287G>A
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."