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.H328Q

c.984T>A

Surrounding Variants

2 papers

NM_144633.3

p.H328Q

c.984T>G

2 papers

NM_144633.3

p.H328R

c.983A>G

1 paper

NM_144633.3

p.H328Y

c.982C>T

1 paper

NM_144633.3

p.L326fs

c.976_977fs

1 paper

NM_144633.3

p.R340C

c.1018C>T

1 paper

NM_144633.3

p.D346_I354del9

c.1036_1061del27

1 paper

NM_144633.3

p.R347C

c.1039C>T

1 paper

NM_144633.3

p.T357A

c.1069A>G

1 paper

NM_144633.3

p.L358M

c.1072C>A

1 paper

NM_144633.3

p.A364V

c.1091C>T

1 paper

NM_144633.3

p.Y375Y

c.1125C>T

1 paper

NM_144633.3

p.E381_R382insATC

c.1141_1145ins9