Varaico: Literature-Extracted Genetic Variants

Gene:SLC13A1
Variant:p.I250V

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
1 paper
NM_022444.4
p.I250V
c.748A>G
Surrounding Variants
1 paper
NM_022444.4
p.G252insFs
c.755_756insC
1 paper
NM_022444.4
p.G258C
c.772G>T
1 paper
NM_022444.4
p.S260A
c.778T>G
1 paper
NM_022444.4
p.S260C
c.779C>G
1 paper
NM_022444.4
p.L239R
c.716T>G
1 paper
NM_022444.4
p.R237H
c.710G>A
1 paper
NM_022444.4
p.L263M
c.787T>A
3 papers
NM_022444.4
p.R237C
c.709C>T
1 paper
NM_022444.4
p.V235L
c.703G>T
1 paper
NM_022444.4
p.V235L
c.703G>C
1 paper
NM_022444.4
p.V235M
c.703G>A
1 paper
NM_022444.4
p.G233C
c.697G>T
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