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

3 papers

NM_001278919.2

p.V532F

c.1594G>T

Surrounding Variants

1 paper

NM_001278919.2

p.Y519H

c.1555T>C

2 papers

NM_001278919.2

p.A513V

c.1538C>T

1 paper

NM_001278919.2

p.A556S

c.1666G>T

1 paper

NM_001278919.2

p.I563T

c.1688T>C

1 paper

NM_001278919.2

p.F572L

c.1714T>C

1 paper

NM_001278919.2

p.C592F

c.1775G>T

1 paper

NM_001278919.2

p.G601S

c.1801G>A

1 paper

NM_001278919.2

p.T613A

c.1837A>G

1 paper

NM_001278919.2

p.G637D

c.1910G>A

1 paper

NM_001278919.2

p.V646L

c.1936G>C

1 paper

NM_001278919.2

p.V646L

c.1936G>T

1 paper

NM_001278919.2

p.F492Y

c.1475T>A