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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNK13

Variant:p.R83Q

KCNK13

67 papers

RefSeq Summary

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, ...

Pfam Domains

Ion_trans_2aa 74–151UCSCIon channel

Ion_trans_2aa 195–285UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 13

HGNC Alias Symbols

K2p13.1; THIK-1; THIK1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr14:90062453 G>A

NM_022054.4

p.R83Q

c.248G>A

Ion_trans_2

Exome: 1.6% (AC=22374, hom=1553)Genome: 8.2% (AC=12439, hom=1532)9 overlapping SVs

Surrounding Variants

1 paper

chr14:90062530 T>G

NM_022054.4

p.S109A

c.325T>G

Ion_trans_2

exact variant not in gnomAD9 overlapping SVs

1 paper

chr14:90062533 A>G

NM_022054.4

p.T110A

c.328A>G

Ion_trans_2

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

1 paper

chr14:90062540 G>A

NM_022054.4

p.G112E

c.335G>A

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

1 paper

chr14:90062340 C>A

NM_022054.4

p.H45Q

c.135C>A

Exome: 0.0% (AC=28, hom=0)Genome: 0.0% (AC=2, hom=0)9 overlapping SVs

1 paper

chr14:90062315 T>A

NM_022054.4

p.V37D

c.110T>A

exact variant not in gnomAD9 overlapping SVs

1 paper

chr14:90062261 G>A

NM_022054.4

p.R19H

c.56G>A

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

1 paper

chr14:90062207 T>G

NM_022054.4

p.M1R

c.2T>G

Exome: 0.0% (AC=8, hom=0)Genome: n/a9 overlapping SVs

2 papers

chr14:90062206 A>C

NM_022054.4

p.M1L

c.1A>C

Exome: 1.6% (AC=8149, hom=0)Genome: 0.0% (AC=15, hom=0)9 overlapping SVs

2 papers

chr14:90062206 A>T

NM_022054.4

p.M1L

c.1A>T

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