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.A320S

c.958G>T

Surrounding Variants

2 papers

NM_172362.3

p.P325Q

c.974C>A

1 paper

NM_172362.3

p.K327R

c.980A>G

1 paper

NM_172362.3

p.K327K

c.981G>A

1 paper

NM_172362.3

p.I309M

c.927C>G

1 paper

NM_172362.3

p.Y306C

c.917A>G

1 paper

NM_172362.3

p.V297M

c.889G>A

1 paper

NM_172362.3

p.Q344H

c.1032G>T

1 paper

NM_172362.3

p.Q344H

c.1032G>C

1 paper

NM_172362.3

p.Q344Q

c.1032G>A

4 papers

NM_172362.3

p.T294M

c.881C>T

1 paper

NM_172362.3

p.Y291C

c.872A>G

1 paper

NM_172362.3

p.L286L

c.858T>C