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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNK6

KCNK6

34 papers

RefSeq Summary

This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. This channel protein, considered an open rectifier, is widely expressed. It...

Pfam Domains

Ion_trans_2aa 67–146UCSCIon channel

Ion_trans_2aa 169–260UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 6

HGNC Alias Symbols

K2p6.1; TWIK-2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 30 variants

3 papers

chr19:38320060 G>A

NM_004823.3

p.R37Q

c.110G>A

Exome: 1.7% (AC=22833, hom=221)Genome: 1.2% (AC=1794, hom=12)11 overlapping SVs

3 papers

chr19:38326601 T>C

NM_004823.3

p.Y111H

c.331T>C

Ion_trans_2

exact variant not in gnomAD10 overlapping SVs

3 papers

chr19:38326931 G>C

NM_004823.3

p.V221L

c.661G>C

Ion_trans_2

exact variant not in gnomAD10 overlapping SVs

3 papers

chr19:38326931 G>T

NM_004823.3

p.V221L

c.661G>T

Ion_trans_2

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

3 papers

chr19:38326988 G>A

NM_004823.3

p.V240I

c.718G>A

Ion_trans_2

Exome: 1.1% (AC=15772, hom=120)Genome: 0.7% (AC=1005, hom=7)10 overlapping SVs

2 papers

chr19:38320266 A>G

NM_004823.3

p.T106A

c.316A>G

Ion_trans_2

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=2, hom=0)11 overlapping SVs

2 papers

chr19:38326719 C>T

NM_004823.3

p.T150I

c.449C>T

Exome: 0.7% (AC=10890, hom=556)Genome: 1.2% (AC=1828, hom=71)10 overlapping SVs

2 papers

chr19:38326910 A>G

NM_004823.3

p.T214A

c.640A>G

Ion_trans_2

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr19:38319963 G>A

NM_004823.3

p.A5T

c.13G>A

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)11 overlapping SVs

1 paper

chr19:38319970 T>C

NM_004823.3

p.L7P

c.20T>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr19:38319984 G>A

NM_004823.3

p.A12T

c.34G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr19:38320104 C>G

NM_004823.3

p.P52A

c.154C>G

Exome: 2.2% (AC=31332, hom=476)Genome: 1.5% (AC=2308, hom=24)11 overlapping SVs

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