Varaico: Literature-Extracted Genetic Variants

KCNH6

99 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

PAS_9aa 29–134UCSCPAS domain

Ion_transaa 256–523UCSCIon transport protein

cNMP_bindingaa 612–697UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 6

HGNC Alias Symbols

Kv11.2; HERG2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001278919.2

p.M124R

c.371T>G

Surrounding Variants

1 paper

NM_001278919.2

p.D119G

c.356A>G

1 paper

NM_001278919.2

p.E118V

c.353A>T

1 paper

NM_001278919.2

p.L132V

c.394C>G

1 paper

NM_001278919.2

p.V115M

c.343G>A

1 paper

NM_001278919.2

p.Q134Q

c.402G>A

1 paper

NM_001278919.2

p.C108S

c.322T>A

1 paper

NM_001278919.2

p.R147P

c.440G>C

1 paper

NM_001278919.2

p.Q151*

c.451C>T

1 paper

NM_001278919.2

p.H160H

c.480T>C

1 paper

NM_001278919.2

p.G167Fs

c.501delinsTGFs

1 paper

NM_001278919.2

p.R172K

c.515G>A

1 paper

NM_001278919.2

p.F191L

c.571T>C