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.T17A

c.49A>G

Surrounding Variants

1 paper

NM_144633.3

p.I18N

c.53T>A

1 paper

NM_144633.3

p.T13N

c.38C>A

1 paper

NM_144633.3

p.T25K

c.74C>A

1 paper

NM_144633.3

p.G6G

c.18A>T

1 paper

NM_144633.3

p.K5Q

c.13A>C

2 papers

NM_144633.3

p.M4I

c.12G>A

1 paper

NM_144633.3

p.M4I

c.12G>C

1 paper

NM_144633.3

p.V3L

c.7G>C

1 paper

NM_144633.3

p.P2S

c.4C>T