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.K788*

c.2362A>T

Surrounding Variants

1 paper

NM_144633.3

p.D782fs

c.2344_2345fs

1 paper

NM_144633.3

p.L794L

c.2382G>A

1 paper

NM_144633.3

p.S758L

c.2273C>T

1 paper

NM_144633.3

p.S737T

c.2209T>A

1 paper

NM_144633.3

p.S726F

c.2177C>T

1 paper

NM_144633.3

p.A724G

c.2171C>G

1 paper

NM_144633.3

p.E722K

c.2164G>A

1 paper

NM_144633.3

p.E720G

c.2159A>G

1 paper

NM_144633.3

p.R705*

c.2113C>T

1 paper

NM_144633.3

p.K704T

c.2111A>C

1 paper

NM_144633.3

p.N703S

c.2108A>G

1 paper

NM_144633.3

p.D815G

c.2444A>G