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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC22A8

SLC22A8

133 papers

RefSeq Summary

This gene encodes a protein involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and a...

Pfam Domains

Sugar_traa 82–507UCSCSugar (and other) transporter

Gene Aliases

HGNC Name

solute carrier family 22 member 8

HGNC Alias Symbol

OAT3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 91 variants

9 papers

chr11:62995792 T>A

NM_004254.4

p.I305F

c.913A>T

Sugar_tr

Exome: 0.2% (AC=2308, hom=50)Genome: 0.2% (AC=359, hom=7)31 overlapping SVs

7 papers

chr11:62999835 G>T

NM_004254.4

p.R149S

c.445C>A

Sugar_tr

exact variant not in gnomAD30 overlapping SVs

7 papers

chr11:62993611 C>T

NM_004254.4

p.V448I

c.1342G>A

Sugar_tr

Exome: 1.1% (AC=16163, hom=104)Genome: 0.9% (AC=1323, hom=13)30 overlapping SVs

6 papers

chr11:63000769 T>C

NM_004254.4

p.M130V

c.388A>G

Sugar_tr

Exome: 0.0% (AC=2, hom=0)Genome: n/a30 overlapping SVs

5 papers

chr11:63014810 C>T

NM_004254.4

p.R50H

c.149G>A

Exome: 0.0% (AC=29, hom=0)Genome: 0.0% (AC=4, hom=0)30 overlapping SVs

5 papers

chr11:62998959 A>T

NM_004254.4

p.T241T

c.723T>A

Sugar_tr

Exome: 17.4% (AC=253864, hom=23693)Genome: 15.4% (AC=23481, hom=2219)30 overlapping SVs

5 papers

chr11:62996135 A>C

NM_004254.4

p.I260R

c.779T>G

Sugar_tr

exact variant not in gnomAD30 overlapping SVs

4 papers

chr11:62998967 G>A

NM_004254.4

p.Q239*

c.715C>T

Sugar_tr

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)30 overlapping SVs

4 papers

chr11:62996085 G>A

NM_004254.4

p.R277W

c.829C>T

Sugar_tr

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=4, hom=0)30 overlapping SVs

4 papers

chr11:62996072 A>G

NM_004254.4

p.V281A

c.842T>C

Sugar_tr

Exome: 0.2% (AC=2901, hom=66)Genome: 1.5% (AC=2239, hom=58)30 overlapping SVs

4 papers

chr11:62995776 G>A

NM_004254.4

p.A310V

c.929C>T

Sugar_tr

Exome: 0.0% (AC=679, hom=3)Genome: 0.0% (AC=55, hom=0)31 overlapping SVs

4 papers

chr11:62994592 G>A

NM_004254.4

p.A389V

c.1166C>T

Sugar_tr

Exome: 0.0% (AC=3, hom=0)Genome: n/a30 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."