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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNG4

KCNG4

77 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 61–160UCSCBTB/POZ domain

Ion_transaa 220–465UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel modifier subfamily G member 4

HGNC Alias Symbol

Kv6.4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 71 variants

8 papers

chr16:84222522 C>T

NM_172347.3

p.V419M

c.1255G>A

Ion_trans

Exome: 0.7% (AC=10040, hom=63)Genome: 0.5% (AC=798, hom=6)14 overlapping SVs

3 papers

chr16:84237137 G>A

NM_172347.3

p.P117S

c.349C>T

BTB_2

Exome: 2.7% (AC=40098, hom=1870)Genome: 4.0% (AC=6163, hom=271)15 overlapping SVs

3 papers

chr16:84222698 A>G

NM_172347.3

p.L360P

c.1079T>C

Ion_trans

Exome: 0.0% (AC=16, hom=1)Genome: 0.0% (AC=1, hom=0)14 overlapping SVs

2 papers

chr16:84236863 C>T

NM_172347.3

p.R208H

c.623G>A

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=4, hom=0)15 overlapping SVs

2 papers

chr16:84223008 G>A

NM_172347.3

p.R257W

c.769C>T

Ion_trans

Exome: 0.0% (AC=67, hom=0)Genome: 0.0% (AC=9, hom=0)14 overlapping SVs

2 papers

chr16:84222999 A>G

NM_172347.3

p.Y260H

c.778T>C

Ion_trans

Exome: 0.0% (AC=273, hom=0)Genome: 0.0% (AC=39, hom=0)14 overlapping SVs

2 papers

chr16:84222749 C>T

NM_172347.3

p.R343H

c.1028G>A

Ion_trans

Exome: 0.0% (AC=143, hom=0)Genome: 0.0% (AC=21, hom=0)14 overlapping SVs

2 papers

chr16:84222688 G>A

NM_172347.3

p.T363T

c.1089C>T

Ion_trans

Exome: 0.0% (AC=36, hom=0)Genome: 0.0% (AC=3, hom=0)14 overlapping SVs

2 papers

chr16:84222664 G>A

NM_172347.3

p.F371F

c.1113C>T

Ion_trans

Exome: 0.0% (AC=42, hom=0)Genome: 0.0% (AC=4, hom=0)14 overlapping SVs

2 papers

chr16:84222663 C>T

NM_172347.3

p.G372S

c.1114G>A

Ion_trans

Exome: 0.1% (AC=950, hom=9)Genome: 0.2% (AC=295, hom=1)14 overlapping SVs

2 papers

chr16:84222357 G>A

NM_172347.3

p.R474C

c.1420C>T

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=1, hom=0)14 overlapping SVs

1 paper

chr16:84237465 G>A

NM_172347.3

p.D7D

c.21C>T

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)15 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."