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.T514P

c.1540A>C

Surrounding Variants

1 paper

NM_144633.3

p.M507V

c.1519A>G

1 paper

NM_144633.3

p.E525D

c.1575G>C

1 paper

NM_144633.3

p.E525D

c.1575G>T

1 paper

NM_144633.3

p.Q501K

c.1501C>A

1 paper

NM_144633.3

p.H498Q

c.1494C>A

1 paper

NM_144633.3

p.H498Q

c.1494C>G

1 paper

NM_144633.3

p.L490V

c.1468C>G

1 paper

NM_144633.3

p.R486K

c.1457G>A

1 paper

NM_144633.3

p.T485N

c.1454C>A

1 paper

NM_144633.3

p.R479*

c.1435A>T

1 paper

NM_144633.3

p.I472V

c.1414A>G

1 paper

NM_144633.3

p.H462Y

c.1384C>T