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.R715L

c.2144G>T

Surrounding Variants

2 papers

NM_001278919.2

p.R715W

c.2143C>T

1 paper

NM_001278919.2

p.T711I

c.2132C>T

1 paper

NM_001278919.2

p.Y697N

c.2089T>A

1 paper

NM_001278919.2

p.D681N

c.2041G>A

1 paper

NM_001278919.2

p.L677V

c.2029C>G

1 paper

NM_001278919.2

p.D673E

c.2019C>A

1 paper

NM_001278919.2

p.D673E

c.2019C>G

1 paper

NM_001278919.2

p.D673H

c.2017G>C

1 paper

NM_001278919.2

p.Q666R

c.1997A>G

1 paper

NM_001278919.2

p.H664D

c.1990C>G

1 paper

NM_001278919.2

p.S662I

c.1985G>T

1 paper

NM_001278919.2

p.H722P

c.2165A>C