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.R155K

c.464G>A

Surrounding Variants

1 paper

NM_144633.3

p.R153K

c.458G>A

1 paper

NM_144633.3

p.G157A

c.470G>C

1 paper

NM_144633.3

p.G157G

c.471G>C

2 papers

NM_144633.3

p.T158A

c.472A>G

1 paper

NM_144633.3

p.K151E

c.451A>G

1 paper

NM_144633.3

p.D148E

c.444C>A

1 paper

NM_144633.3

p.R164W

c.490C>T

1 paper

NM_144633.3

p.R166Q

c.497G>A

1 paper

NM_144633.3

p.A169V

c.506C>T

1 paper

NM_144633.3

p.V170I

c.508G>A

1 paper

NM_144633.3

p.I174M

c.522C>G

1 paper

NM_144633.3

p.F193L

c.577T>C