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.L403V

c.1207T>G

Surrounding Variants

1 paper

NM_001278919.2

p.L403F

c.1209G>C

1 paper

NM_001278919.2

p.L403F

c.1209G>T

1 paper

NM_001278919.2

p.F408F

c.1224C>T

1 paper

NM_001278919.2

p.V386G

c.1157T>G

1 paper

NM_001278919.2

p.R385H

c.1154G>A

2 papers

NM_001278919.2

p.R385G

c.1153C>G

1 paper

NM_001278919.2

p.G423S

c.1267G>A

1 paper

NM_001278919.2

p.L381M

c.1141C>A

1 paper

NM_001278919.2

p.R379Q

c.1136G>A

1 paper

NM_001278919.2

p.R379W

c.1135C>T

1 paper

NM_001278919.2

p.R427Q

c.1280G>A

1 paper

NM_001278919.2

p.G435G

c.1305C>A