Varaico: Literature-Extracted Genetic Variants

KCNH8

248 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 29–135UCSCPAS domain

Ion_transaa 221–481UCSCIon transport protein

cNMP_bindingaa 570–654UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 8

HGNC Alias Symbol

Kv12.1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_144633.3

p.A606S

c.1816G>T

Surrounding Variants

1 paper

NM_144633.3

p.I607S

c.1820T>G

1 paper

NM_144633.3

p.S595Y

c.1784C>A

1 paper

NM_144633.3

p.G594D

c.1781G>A

1 paper

NM_144633.3

p.R580C

c.1738C>T

1 paper

NM_144633.3

p.P574L

c.1721C>T

1 paper

NM_144633.3

p.K568Q

c.1702A>C

1 paper

NM_144633.3

p.A555V

c.1664C>T

1 paper

NM_144633.3

p.L549*

c.1646T>A

2 papers

NM_144633.3

p.K544Q

c.1630A>C

1 paper

NM_144633.3

p.M540V

c.1618A>G

1 paper

NM_144633.3

p.E525D

c.1575G>C

1 paper

NM_144633.3

p.E525D

c.1575G>T