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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNK10

KCNK10

85 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current und...

Pfam Domains

Ion_trans_2aa 131–207UCSCIon channel

Ion_trans_2aa 235–324UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 10

HGNC Alias Symbols

K2p10.1; TREK-2; TREK2; PPP1R97

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 75 variants

3 papers

chr14:88192331 G>A

NM_138317.3

p.T254M

c.761C>T

Ion_trans_2

Exome: 0.2% (AC=3300, hom=3)Genome: 0.2% (AC=234, hom=0)11 overlapping SVs

3 papers

chr14:88185618 C>T

NM_138317.3

p.A517T

c.1549G>A

Exome: 25.0% (AC=365890, hom=49772)Genome: 19.6% (AC=29837, hom=3843)11 overlapping SVs

2 papers

chr14:88240709 T>A

NM_138317.3

p.T172S

c.514A>T

Ion_trans_2

exact variant not in gnomAD13 overlapping SVs

2 papers

chr14:88240708 G>C

NM_138317.3

p.T172S

c.515C>G

Ion_trans_2

exact variant not in gnomAD13 overlapping SVs

2 papers

chr14:88227381 G>C

NM_138317.3

p.V225V

c.675C>G

Exome: 25.5% (AC=371462, hom=49896)Genome: 29.1% (AC=44321, hom=7115)12 overlapping SVs

2 papers

chr14:88192251 T>A

NM_138317.3

p.T281S

c.841A>T

Ion_trans_2

exact variant not in gnomAD11 overlapping SVs

2 papers

chr14:88188043 C>G

NM_138317.3

p.G312A

c.935G>C

Ion_trans_2

exact variant not in gnomAD11 overlapping SVs

1 paper

chr14:88322792 A>T

NM_138317.3

p.F3I

c.7T>A

exact variant not in gnomAD13 overlapping SVs

1 paper

chr14:88322780 T>C

NM_138317.3

p.T7A

c.19A>G

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

1 paper

chr14:88270749 C>T

NM_138317.3

p.V18Splc

c.53-7198G>A

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=5, hom=0)12 overlapping SVs

1 paper

chr14:88263530 G>A

NM_138317.3

p.P25L

c.74C>T

Exome: 0.0% (AC=19, hom=0)Genome: n/a12 overlapping SVs

1 paper

chr14:88263449 G>C

NM_138317.3

p.S52C

c.155C>G

Exome: 0.0% (AC=145, hom=0)Genome: 0.0% (AC=12, hom=0)12 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."