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.D261A

c.782A>C

Surrounding Variants

1 paper

NM_144633.3

p.D261E

c.783C>A

1 paper

NM_144633.3

p.D261E

c.783C>G

1 paper

NM_144633.3

p.I262I

c.786T>C

1 paper

NM_144633.3

p.A263T

c.787G>A

1 paper

NM_144633.3

p.T258N

c.773C>A

1 paper

NM_144633.3

p.E265K

c.793G>A

1 paper

NM_144633.3

p.E265A

c.794A>C

2 papers

NM_144633.3

p.E265D

c.795G>C

2 papers

NM_144633.3

p.E265D

c.795G>T

1 paper

NM_144633.3

p.N248S

c.743A>G

1 paper

NM_144633.3

p.N242D

c.724A>G

1 paper

NM_144633.3

p.V235V

c.705T>A