Varaico: Literature-Extracted Genetic Variants

KCNH6

99 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 29–134UCSCPAS domain

Ion_transaa 256–523UCSCIon transport protein

cNMP_bindingaa 612–697UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 6

HGNC Alias Symbols

Kv11.2; HERG2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001278919.2

p.A353T

c.1057G>A

Surrounding Variants

1 paper

NM_001278919.2

p.I348T

c.1043T>C

1 paper

NM_001278919.2

p.R362H

c.1085G>A

1 paper

NM_001278919.2

p.D366N

c.1096G>A

1 paper

NM_001278919.2

p.R336C

c.1006C>T

1 paper

NM_001278919.2

p.H333H

c.999C>T

1 paper

NM_001278919.2

p.H333P

c.998A>C

1 paper

NM_001278919.2

p.T322A

c.964A>G

1 paper

NM_001278919.2

p.F319L

c.957C>A

1 paper

NM_001278919.2

p.F319L

c.957C>G

1 paper

NM_001278919.2

p.F319L

c.955T>C

1 paper

NM_001278919.2

p.D314E

c.942C>A

1 paper

NM_001278919.2

p.D314E

c.942C>G