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

1–12 of 178 variants

6 papers

NM_144633.3

p.V855L

c.2563G>C

2 papers

NM_144633.3

p.M4I

c.12G>A

2 papers

NM_144633.3

p.T17A

c.49A>G

2 papers

NM_144633.3

p.T158A

c.472A>G

2 papers

NM_144633.3

p.E265D

c.795G>C

2 papers

NM_144633.3

p.E265D

c.795G>T

2 papers

NM_144633.3

p.H328R

c.983A>G

2 papers

NM_144633.3

p.H328Q

c.984T>A

2 papers

NM_144633.3

p.H328Q

c.984T>G

2 papers

NM_144633.3

p.K544Q

c.1630A>C

2 papers

NM_144633.3

p.V881I

c.2641G>A

2 papers

NM_144633.3

p.E896G

c.2687A>G