Varaico: Literature-Extracted Genetic Variants

Gene:SLC13A1
Variant:p.R12*

SLC13A1

82 papers

RefSeq Summary

The protein encoded by this gene is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided...

Pfam Domains

Na_sulph_sympaa 6–579UCSCSodium:sulfate symporter transmembrane region

Gene Aliases

HGNC Name

solute carrier family 13 member 1

HGNC Alias Symbols

NaSi-1; NAS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_022444.4
p.R12*
c.34C>T
Surrounding Variants
1 paper
NM_022444.4
p.F13Y
c.38T>A
1 paper
NM_022444.4
p.V16V
c.48G>C
1 paper
NM_022444.4
p.Y6Y
c.18C>T
1 paper
NM_022444.4
p.S5S
c.15T>C
1 paper
NM_022444.4
p.F4V
c.10T>G
1 paper
NM_022444.4
p.K33_E34Splc
c.99+1G>A
1 paper
NM_022444.4
p.K33_E34Splc
c.99+2T>G
1 paper
NM_022444.4
p.K33_E34Splc
c.99+1269C>A
1 paper
NM_022444.4
p.K33_E34Splc
c.99+1812C>G
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