Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A2
Variant:p.T306I

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.T306I
c.917C>T
Surrounding Variants
1 paper
NM_006996.3
p.L304_S305insFs
c.911_914dup4
1 paper
NM_006996.3
p.S305_T306del2
c.913_917del6
1 paper
NM_006996.3
p.Y309C
c.926A>G
3 papers
NM_006996.3
p.S299_Y309delFs
c.895_925del31
3 papers
NM_006996.3
p.W302*
c.906G>A
3 papers
NM_006996.3
p.W302*
c.905G>A
4 papers
NM_006996.3
p.W301delFs
c.903delC
2 papers
NM_006996.3
p.W301fs
c.901_902fs
1 paper
NM_006996.3
p.S299_V300delFs
c.896_899del4
1 paper
NM_006996.3
p.V313delFs
c.939delC
1 paper
NM_006996.3
p.L296R
c.887T>G
5 papers
NM_006996.3
p.L295delFs
c.885delA
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."