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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNA10

KCNA10

73 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

BTB_2aa 88–179UCSCBTB/POZ domain

Ion_transaa 215–468UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 10

HGNC Alias Symbol

Kv1.8

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 87 variants

4 papers

chr1:110518189 C>T

NM_005549.2

p.R200H

c.599G>A

Exome: 0.0% (AC=32, hom=0)Genome: 0.0% (AC=3, hom=0)239 overlapping SVs

4 papers

chr1:110518130 C>T

NM_005549.2

p.V220M

c.658G>A

Ion_trans

Exome: 7.3% (AC=106022, hom=4139)Genome: 6.0% (AC=9058, hom=320)239 overlapping SVs

3 papers

chr1:110517625 A>G

NM_005549.2

p.L388P

c.1163T>C

Ion_trans

Exome: 0.1% (AC=2106, hom=4)Genome: 0.1% (AC=150, hom=0)239 overlapping SVs

2 papers

chr1:110518514 T>C

NM_005549.2

p.I92V

c.274A>G

BTB_2

Exome: 0.0% (AC=624, hom=1)Genome: 0.0% (AC=50, hom=0)239 overlapping SVs

2 papers

chr1:110518444 C>T

NM_005549.2

p.R115Q

c.344G>A

BTB_2

Exome: 0.0% (AC=718, hom=9)Genome: 0.1% (AC=126, hom=4)239 overlapping SVs

2 papers

chr1:110518313 T>C

NM_005549.2

p.I159V

c.475A>G

BTB_2

Exome: 0.0% (AC=282, hom=2)Genome: 0.0% (AC=18, hom=0)239 overlapping SVs

2 papers

chr1:110518148 C>T

NM_005549.2

p.A214T

c.640G>A

Exome: 0.0% (AC=42, hom=0)Genome: 0.0% (AC=8, hom=0)239 overlapping SVs

2 papers

chr1:110518027 T>C

NM_005549.2

p.N254S

c.761A>G

Ion_trans

Exome: 0.4% (AC=5427, hom=181)Genome: 2.4% (AC=3655, hom=155)239 overlapping SVs

2 papers

chr1:110517724 G>A

NM_005549.2

p.S355L

c.1064C>T

Ion_trans

Exome: 0.0% (AC=250, hom=0)Genome: 0.0% (AC=18, hom=0)239 overlapping SVs

2 papers

chr1:110517391 C>T

NM_005549.2

p.R466Q

c.1397G>A

Ion_trans

Exome: 0.0% (AC=270, hom=2)Genome: 0.0% (AC=38, hom=0)239 overlapping SVs

1 paper

chr1:110518753 G>A

NM_005549.2

p.A12V

c.35C>T

Exome: 0.0% (AC=32, hom=0)Genome: 0.0% (AC=4, hom=0)238 overlapping SVs

1 paper

chr1:110518643 C>G

NM_005549.2

p.G49R

c.145G>C

Exome: 0.0% (AC=56, hom=0)Genome: 0.0% (AC=2, hom=0)239 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."