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.L227H

c.680T>A

Surrounding Variants

1 paper

NM_144633.3

p.W226*

c.678G>A

1 paper

NM_144633.3

p.F220C

c.659T>G

1 paper

NM_144633.3

p.V235V

c.705T>A

1 paper

NM_144633.3

p.H216R

c.647A>G

1 paper

NM_144633.3

p.N242D

c.724A>G

1 paper

NM_144633.3

p.A207S

c.619G>T

1 paper

NM_144633.3

p.N248S

c.743A>G

1 paper

NM_144633.3

p.T258N

c.773C>A

1 paper

NM_144633.3

p.F193L

c.579T>A

1 paper

NM_144633.3

p.F193L

c.579T>G

1 paper

NM_144633.3

p.D261A

c.782A>C

1 paper

NM_144633.3

p.D261E

c.783C>A