Varaico: Literature-Extracted Genetic Variants

KCNH1

216 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 30–135UCSCPAS domain

Ion_transaa 217–510UCSCIon transport protein

cNMP_bindingaa 599–684UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 1

HGNC Alias Symbols

Kv10.1; eag; h-eag; eag1; hEAG; K(V)10.1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_172362.3

p.P276A

c.826C>G

Surrounding Variants

1 paper

NM_172362.3

p.V274A

c.821T>C

1 paper

NM_172362.3

p.V274D

c.821T>A

1 paper

NM_172362.3

p.G278R

c.832G>C

1 paper

NM_172362.3

p.G278R

c.832G>A

1 paper

NM_172362.3

p.G278E

c.833G>A

2 papers

NM_172362.3

p.V266M

c.796G>A

1 paper

NM_172362.3

p.L286F

c.856C>T

2 papers

NM_172362.3

p.L286R

c.857T>G

1 paper

NM_172362.3

p.L286P

c.857T>C

1 paper

NM_172362.3

p.L286H

c.857T>A

1 paper

NM_172362.3

p.L286L

c.858T>C

1 paper

NM_172362.3

p.L262M

c.784T>A