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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC22A16

SLC22A16

131 papers

RefSeq Summary

This gene encodes a member of the organic zwitterion transporter protein family which transports carnitine. The encoded protein has also been shown to transport anticancer drugs like bleomycin (PMID: ...

Pfam Domains

Sugar_traa 109–538UCSCSugar (and other) transporter

Gene Aliases

HGNC Name

solute carrier family 22 member 16

HGNC Alias Symbols

FLIPT2; CT2; OKB1; OAT6

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 104 variants

24 papers

chr6:110456925 T>C

NM_033125.4

p.H49R

c.146A>G

Exome: 23.6% (AC=344502, hom=42424)Genome: 27.1% (AC=41254, hom=6035)84 overlapping SVs

21 papers

chr6:110438805 A>G

NM_033125.4

p.M409T

c.1226T>C

Sugar_tr

Exome: 21.1% (AC=308501, hom=35418)Genome: 15.8% (AC=23989, hom=2501)82 overlapping SVs

13 papers

chr6:110442672 A>G

NM_033125.4

p.V252A

c.755T>C

Sugar_tr

Exome: 9.0% (AC=131593, hom=6136)Genome: 9.6% (AC=14601, hom=733)82 overlapping SVs

7 papers

chr6:110456759 A>G

NM_033125.4

p.N104N

c.312T>C

Exome: 23.6% (AC=345038, hom=42516)Genome: 27.2% (AC=41290, hom=6045)84 overlapping SVs

3 papers

chr6:110456857 C>G

NM_033125.4

p.E72Q

c.214G>C

Exome: 0.0% (AC=355, hom=0)Genome: 0.0% (AC=40, hom=0)84 overlapping SVs

3 papers

chr6:110446925 G>A

NM_033125.4

p.A200V

c.599C>T

Sugar_tr

Exome: 0.4% (AC=5138, hom=22)Genome: 0.4% (AC=577, hom=3)83 overlapping SVs

3 papers

chr6:110438795 G>A

NM_033125.4

p.V412V

c.1236C>T

Sugar_tr

Exome: 0.0% (AC=390, hom=3)Genome: 0.0% (AC=45, hom=0)82 overlapping SVs

2 papers

chr6:110456926 G>A

NM_033125.4

p.H49Y

c.145C>T

Exome: 0.0% (AC=92, hom=0)Genome: 0.0% (AC=8, hom=0)84 overlapping SVs

2 papers

chr6:110456862 C>T

NM_033125.4

p.S70N

c.209G>A

Exome: 0.1% (AC=872, hom=7)Genome: 0.0% (AC=69, hom=1)84 overlapping SVs

2 papers

chr6:110456622 C>T

NM_033125.4

p.R150Q

c.449G>A

Sugar_tr

Exome: 0.0% (AC=32, hom=0)Genome: 0.0% (AC=1, hom=0)84 overlapping SVs

2 papers

chr6:110442453 A>C

NM_033125.4

p.L325R

c.974T>G

Sugar_tr

exact variant not in gnomAD82 overlapping SVs

2 papers

chr6:110438740 C>T

NM_033125.4

p.V431I

c.1291G>A

Sugar_tr

Exome: 0.1% (AC=1782, hom=28)Genome: 0.9% (AC=1405, hom=17)82 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."