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

2 papers

NM_144633.3

p.E896G

c.2687A>G

Surrounding Variants

1 paper

NM_144633.3

p.N897T

c.2690A>C

1 paper

NM_144633.3

p.Q893R

c.2678A>G

1 paper

NM_144633.3

p.P901L

c.2702C>T

2 papers

NM_144633.3

p.V881I

c.2641G>A

1 paper

NM_144633.3

p.V915L

c.2743G>C

1 paper

NM_144633.3

p.V915L

c.2743G>T

1 paper

NM_144633.3

p.L922*

c.2765T>A

1 paper

NM_144633.3

p.L922*

c.2765T>G

1 paper

NM_144633.3

p.G940G

c.2820C>T

1 paper

NM_144633.3

p.G941R

c.2821G>A

1 paper

NM_144633.3

p.G941R

c.2821G>C

1 paper

NM_144633.3

p.S952C

c.2854A>T