Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.L432Q

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.L432Q
c.1295T>A
Surrounding Variants
1 paper
NM_006996.3
p.L432R
c.1295T>G
1 paper
NM_006996.3
p.L432V
c.1294C>G
1 paper
NM_006996.3
p.L432delFs
c.1296delC
1 paper
NM_006996.3
p.F429_I430del2
c.1285_1289del6
1 paper
NM_006996.3
p.N427_T428del2
c.1279_1283del6
1 paper
NM_006996.3
p.T428I
c.1283C>T
1 paper
NM_006996.3
p.T428S
c.1283C>G
1 paper
NM_006996.3
p.L437_L438insGT
c.1309_1313ins6
1 paper
NM_006996.3
p.V426del1
c.1276_1277delTAC
1 paper
NM_006996.3
p.V426I
c.1276G>A
1 paper
NM_006996.3
p.F424F
c.1272T>C
1 paper
NM_006996.3
p.L440V
c.1318C>G
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."