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.E90K

c.268G>A

Surrounding Variants

3 papers

NM_001278919.2

p.G88V

c.263G>T

1 paper

NM_001278919.2

p.L87P

c.260T>C

1 paper

NM_001278919.2

p.D95N

c.283G>A

1 paper

NM_001278919.2

p.D95H

c.283G>C

1 paper

NM_001278919.2

p.R81H

c.242G>A

1 paper

NM_001278919.2

p.S80S

c.240C>A

1 paper

NM_001278919.2

p.Y99*

c.297C>A

1 paper

NM_001278919.2

p.Y99*

c.297C>G

1 paper

NM_001278919.2

p.R100C

c.298C>T

1 paper

NM_001278919.2

p.P75S

c.223C>T

1 paper

NM_001278919.2

p.C64*

c.192C>A

1 paper

NM_001278919.2

p.Q61K

c.181C>A