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.P236L

c.707C>T

Surrounding Variants

1 paper

NM_172362.3

p.T231I

c.692C>T

2 papers

NM_172362.3

p.T219T

c.657G>A

8 papers

NM_172362.3

p.K217N

c.651G>T

9 papers

NM_172362.3

p.K217N

c.651G>C

1 paper

NM_172362.3

p.L262M

c.784T>A

2 papers

NM_172362.3

p.V266M

c.796G>A

1 paper

NM_172362.3

p.P206H

c.617C>A

1 paper

NM_172362.3

p.T205S

c.614C>G

1 paper

NM_172362.3

p.T205S

c.613A>T

1 paper

NM_172362.3

p.E201E

c.603G>A

4 papers

NM_172362.3

p.K199R

c.596A>G

1 paper

NM_172362.3

p.V274A

c.821T>C