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

1–12 of 262 variants

19 papers

NM_172362.3

p.R357Q

c.1070G>A

13 papers

NM_172362.3

p.L489F

c.1465C>T

11 papers

NM_172362.3

p.I494V

c.1480A>G

9 papers

NM_172362.3

p.K217N

c.651G>C

8 papers

NM_172362.3

p.K217N

c.651G>T

8 papers

NM_172362.3

p.G496R

c.1486G>C

8 papers

NM_172362.3

p.G496R

c.1486G>A

8 papers

NM_172362.3

p.Q503R

c.1508A>G

7 papers

NM_172362.3

p.L379V

c.1135C>G

7 papers

NM_172362.3

p.G496E

c.1487G>A

6 papers

NM_172362.3

p.G375R

c.1123G>C

6 papers

NM_172362.3

p.G375R

c.1123G>A