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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNG3

Variant:p.L400I

KCNG3

35 papers

RefSeq Summary

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotr...

Pfam Domains

BTB_2aa 11–111UCSCBTB/POZ domain

Ion_transaa 170–420UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel modifier subfamily G member 3

HGNC Alias Symbol

Kv6.3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr2:42444047 G>T

NM_133329.6

p.L400I

c.1198C>A

Ion_trans

exact variant not in gnomAD98 overlapping SVs

Surrounding Variants

1 paper

chr2:42444067 C>A

NM_133329.6

p.C393F

c.1178G>T

Ion_trans

exact variant not in gnomAD98 overlapping SVs

1 paper

chr2:42444133 A>T

NM_133329.6

p.M371K

c.1112T>A

Ion_trans

exact variant not in gnomAD98 overlapping SVs

1 paper

chr2:42444247 G>A

NM_133329.6

p.A333V

c.998C>T

Ion_trans

Exome: 0.0% (AC=2, hom=0)Genome: n/a98 overlapping SVs

1 paper

chr2:42444274 A>G

NM_133329.6

p.V324A

c.971T>C

Ion_trans

exact variant not in gnomAD98 overlapping SVs

1 paper

chr2:42444283 C>T

NM_133329.6

p.R321Q

c.962G>A

Ion_trans

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)98 overlapping SVs

1 paper

chr2:42444349 A>G

NM_133329.6

p.V299A

c.896T>C

Ion_trans

exact variant not in gnomAD98 overlapping SVs

1 paper

chr2:42444575 T>C

NM_133329.6

p.I224V

c.670A>G

Ion_trans

Exome: n/aGenome: 0.0% (AC=2, hom=0)98 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."