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.T270M

c.809C>T

Surrounding Variants

1 paper

NM_001278919.2

p.F273L

c.817T>C

1 paper

NM_001278919.2

p.F273S

c.818T>C

1 paper

NM_001278919.2

p.F273L

c.819C>A

1 paper

NM_001278919.2

p.F273L

c.819C>G

3 papers

NM_001278919.2

p.T274M

c.821C>T

1 paper

NM_001278919.2

p.L266M

c.796C>A

1 paper

NM_001278919.2

p.V258fs

c.772_773fs

1 paper

NM_001278919.2

p.D284D

c.852T>C

1 paper

NM_001278919.2

p.R290fs

c.868_869fs

1 paper

NM_001278919.2

p.R290H

c.869G>A

1 paper

NM_001278919.2

p.R290insFs

c.870dupT

2 papers

NM_001278919.2

p.R290Fs

c.870delinsTGFs