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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC13A1

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 114 variants

10 papers

chr7:123199913 G>A

NM_022444.4

p.R12*

c.34C>T

Na_sulph_symp

Exome: 0.2% (AC=3565, hom=7)Genome: 0.2% (AC=319, hom=0)58 overlapping SVs

8 papers

chr7:123181058 C>T

NM_022444.4

p.W48*

c.143G>A

Na_sulph_symp

exact variant not in gnomAD58 overlapping SVs

8 papers

chr7:123181057 C>T

NM_022444.4

p.W48*

c.144G>A

Na_sulph_symp

Exome: 0.1% (AC=1210, hom=0)Genome: 0.1% (AC=107, hom=0)58 overlapping SVs

8 papers

chr7:123169180 T>C

NM_022444.4

p.N174S

c.521A>G

Na_sulph_symp

Exome: 31.5% (AC=459795, hom=73594)Genome: 30.0% (AC=45603, hom=6976)60 overlapping SVs

3 papers

chr7:123147262 G>A

NM_022444.4

p.R237C

c.709C>T

Na_sulph_symp

Exome: 0.2% (AC=2937, hom=4)Genome: 0.1% (AC=192, hom=1)58 overlapping SVs

2 papers

chr7:123171903 A>C

NM_022444.4

p.V77G

c.230T>G

Na_sulph_symp

exact variant not in gnomAD59 overlapping SVs

2 papers

chr7:123171835 C>A

NM_022444.4

p.E100*

c.298G>T

Na_sulph_symp

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=2, hom=0)59 overlapping SVs

2 papers

chr7:123171828 C>T

NM_022444.4

p.W102*

c.305G>A

Na_sulph_symp

Exome: 0.0% (AC=6, hom=0)Genome: n/a59 overlapping SVs

2 papers

chr7:123171827 C>T

NM_022444.4

p.W102*

c.306G>A

Na_sulph_symp

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=2, hom=0)59 overlapping SVs

2 papers

chr7:123169205 C>T

NM_022444.4

p.E166K

c.496G>A

Na_sulph_symp

Exome: 0.0% (AC=40, hom=1)Genome: 0.0% (AC=3, hom=0)60 overlapping SVs

2 papers

chr7:123147158 C>T

NM_022444.4

p.T271Splc

c.812+1G>A

Na_sulph_symp

Exome: 0.0% (AC=56, hom=0)Genome: 0.0% (AC=3, hom=0)58 overlapping SVs

2 papers

chr7:123134528 G>A

NM_022444.4

p.R272C

c.814C>T

Na_sulph_symp

Exome: 0.0% (AC=428, hom=1)Genome: 0.0% (AC=41, hom=0)58 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."