Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.E271K

SLC19A3

230 papers

RefSeq Summary

This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a reces...

Pfam Domains

Folate_carrieraa 10–441UCSCReduced folate carrier

Gene Aliases

HGNC Name

solute carrier family 19 member 3

HGNC Alias Symbols

THTR2; thTr-2; hTHTR2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025243.4
p.E271K
c.811G>A
Surrounding Variants
1 paper
NM_025243.4
p.C272*
c.816C>A
1 paper
NM_025243.4
p.Y273D
c.817T>G
1 paper
NM_025243.4
p.S274A
c.820T>G
1 paper
NM_025243.4
p.Q267Q
c.801A>G
1 paper
NM_025243.4
p.Q267insFs
c.800_801insT
1 paper
NM_025243.4
p.W265C
c.795G>T
1 paper
NM_025243.4
p.W265C
c.795G>C
1 paper
NM_025243.4
p.D268_K276delins
c.802_827delinsGG
1 paper
NM_025243.4
p.R277C
c.829C>T
3 papers
NM_025243.4
p.L278P
c.833T>C
1 paper
NM_025243.4
p.F262S
c.785T>C
1 paper
NM_025243.4
p.S274_Y280del0
c.821_838del18
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