Varaico: Literature-Extracted Genetic Variants

Gene:SLC13A1
Variant:p.R272C

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
2 papers
NM_022444.4
p.R272C
c.814C>T
Surrounding Variants
1 paper
NM_022444.4
p.R277S
c.829C>A
1 paper
NM_022444.4
p.R277P
c.830G>C
1 paper
NM_022444.4
p.F285C
c.854T>G
1 paper
NM_022444.4
p.T286M
c.857C>T
1 paper
NM_022444.4
p.F287C
c.860T>G
1 paper
NM_022444.4
p.S288A
c.862T>G
1 paper
NM_022444.4
p.S288C
c.863C>G
1 paper
NM_022444.4
p.F289C
c.866T>G
1 paper
NM_022444.4
p.P290Q
c.869C>A
1 paper
NM_022444.4
p.W302*
c.905G>A
1 paper
NM_022444.4
p.W302*
c.906G>A
1 paper
NM_022444.4
p.L306I
c.916C>A
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