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

1–12 of 139 variants

5 papers

NM_001278919.2

p.Y54C

c.161A>G

4 papers

NM_001278919.2

p.P235L

c.704C>T

3 papers

NM_001278919.2

p.G88V

c.263G>T

3 papers

NM_001278919.2

p.T274M

c.821C>T

3 papers

NM_001278919.2

p.L403V

c.1207T>G

3 papers

NM_001278919.2

p.V532F

c.1594G>T

3 papers

NM_001278919.2

p.R715L

c.2144G>T

2 papers

NM_001278919.2

p.E90K

c.268G>A

2 papers

NM_001278919.2

p.M124R

c.371T>G

2 papers

NM_001278919.2

p.Q225_V226Splc

c.676-2A>G

2 papers

NM_001278919.2

p.R290Fs

c.870delinsTGFs

2 papers

NM_001278919.2

p.A353T

c.1057G>A