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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC13A3

Variant:p.R503I

SLC13A3

48 papers

RefSeq Summary

Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Bo...

Pfam Domains

Na_sulph_sympaa 9–573UCSCSodium:sulfate symporter transmembrane region

Gene Aliases

HGNC Name

solute carrier family 13 member 3

HGNC Alias Symbols

NADC3; SDCT2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr20:46563538 C>A

NM_022829.6

p.R503I

c.1508G>T

Na_sulph_symp

exact variant not in gnomAD8 overlapping SVs

Surrounding Variants

1 paper

chr20:46563466 G>A

NM_022829.6

p.T527M

c.1580C>T

Na_sulph_symp

Exome: 0.0% (AC=5, hom=0)Genome: n/a8 overlapping SVs

1 paper

chr20:46563465 C>A

NM_022829.6

p.T527T

c.1581G>T

Na_sulph_symp

Exome: 0.0% (AC=54, hom=0)Genome: 0.0% (AC=6, hom=0)8 overlapping SVs

1 paper

chr20:46563458 GTT>N

NM_022829.6

p.N530fs

c.1588_1589fs

Na_sulph_symp

exact variant not in gnomAD8 overlapping SVs

1 paper

chr20:46566244 C>G

NM_022829.6

p.P493P

c.1479G>C

Na_sulph_symp

exact variant not in gnomAD9 overlapping SVs

1 paper

chr20:46566245 G>A

NM_022829.6

p.P493L

c.1478C>T

Na_sulph_symp

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=2, hom=0)9 overlapping SVs

2 papers

chr20:46566248 A>G

NM_022829.6

p.L492P

c.1475T>C

Na_sulph_symp

exact variant not in gnomAD9 overlapping SVs

1 paper

chr20:46566335 G>A

NM_022829.6

p.P463L

c.1388C>T

Na_sulph_symp

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

3 papers

chr20:46560189 C>T

NM_022829.6

p.G548S

c.1642G>A

Na_sulph_symp

exact variant not in gnomAD9 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."