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

1 paper

NM_001278919.2

p.D835Y

c.2503G>T

Surrounding Variants

1 paper

NM_001278919.2

p.P858L

c.2573C>T

1 paper

NM_001278919.2

p.P925L

c.2774C>T

1 paper

NM_001278919.2

p.D949E

c.2847T>A

1 paper

NM_001278919.2

p.D949E

c.2847T>G

1 paper

NM_001278919.2

p.P748T

c.2242C>A

1 paper

NM_001278919.2

p.P748insFs

c.2243_2244insC

1 paper

NM_001278919.2

p.G736R

c.2206G>C

1 paper

NM_001278919.2

p.P729L

c.2186C>T

1 paper

NM_001278919.2

p.P725A

c.2173C>G

1 paper

NM_001278919.2

p.S723L

c.2168C>T

1 paper

NM_001278919.2

p.H722P

c.2165A>C

3 papers

NM_001278919.2

p.R715L

c.2144G>T