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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC13A3

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

1–12 of 46 variants

4 papers

chr20:46613652 G>A

NM_022829.6

p.T62M

c.185C>T

Na_sulph_symp

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=15, hom=0)9 overlapping SVs

4 papers

chr20:46596190 G>T

NM_022829.6

p.A254D

c.761C>A

Na_sulph_symp

exact variant not in gnomAD11 overlapping SVs

3 papers

chr20:46613506 G>A

NM_022829.6

p.R111*

c.331C>T

Na_sulph_symp

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=1, hom=0)9 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

2 papers

chr20:46589157 T>C

NM_022829.6

p.K339Splc

c.1016+3A>G

Exome: 0.1% (AC=1884, hom=2)Genome: 0.1% (AC=112, hom=0)10 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

chr20:46651342 A>C

NM_022829.6

p.L27R

c.80T>G

Na_sulph_symp

Exome: 0.0% (AC=1, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr20:46651336 G>A

NM_022829.6

p.P29L

c.86C>T

Na_sulph_symp

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=3, hom=0)7 overlapping SVs

1 paper

chr20:46613719 G>C

NM_022829.6

p.R40G

c.118C>G

Na_sulph_symp

Exome: 0.0% (AC=54, hom=0)Genome: 0.0% (AC=9, hom=0)9 overlapping SVs

1 paper

chr20:46613664 G>A

NM_022829.6

p.P58L

c.173C>T

Na_sulph_symp

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=2, hom=0)9 overlapping SVs

1 paper

chr20:46613573 G>A

NM_022829.6

p.D88D

c.264C>T

Na_sulph_symp

exact variant not in gnomAD9 overlapping SVs

1 paper

chr20:46613560 A>C

NM_022829.6

p.F93V

c.277T>G

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."