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

8 papers

NM_172362.3

p.Q503R

c.1508A>G

NM_002238.4

p.Q476R

c.1427A>G

Surrounding Variants

1 paper

NM_172362.3

p.Q503delFs

c.1509delT

1 paper

NM_002238.4

p.Q477P

c.1430A>C

1 paper

NM_172362.3

p.A507T

c.1519G>A

1 paper

NM_172362.3

p.T499M

c.1496C>T

7 papers

NM_172362.3

p.G496E

c.1487G>A

NM_002238.4

p.G469E

c.1406G>A

3 papers

NM_172362.3

p.N510T

c.1529A>C

9 papers

NM_172362.3

p.G496R

c.1486G>C

NM_002238.4

p.G469R

c.1405G>C

9 papers

NM_172362.3

p.G496R

c.1486G>A

NM_002238.4

p.G469R

c.1405G>A

11 papers

NM_172362.3

p.I494V

c.1480A>G

NM_002238.4

p.I467V

c.1399A>G

4 papers

NM_172362.3

p.T493N

c.1478C>A

2 papers

NM_172362.3

p.H513Q

c.1539T>G

2 papers

NM_172362.3

p.H513Q

c.1539T>A