Varaico: Literature-Extracted Genetic Variants

Gene:SLC13A1
Variant:p.S142L

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.S142L
c.425C>T
Surrounding Variants
1 paper
NM_022444.4
p.A145P
c.433G>C
1 paper
NM_022444.4
p.V154L
c.460G>C
1 paper
NM_022444.4
p.M128insFs
c.383_384ins8
1 paper
NM_022444.4
p.G126_F127insFs
c.378_379ins8
1 paper
NM_022444.4
p.I158F
c.472A>T
1 paper
NM_022444.4
p.T124M
c.371C>T
2 papers
NM_022444.4
p.E166K
c.496G>A
8 papers
NM_022444.4
p.N174S
c.521A>G
1 paper
NM_022444.4
p.E185Splc
c.554-1G>C
1 paper
NM_022444.4
p.G189E
c.566G>A
1 paper
NM_022444.4
p.G204Splc
c.611+1G>T
1 paper
NM_022444.4
p.G204Splc
c.611+2T>A
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