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.I451M

c.1353C>G

Surrounding Variants

1 paper

NM_172362.3

p.S445T

c.1334G>C

1 paper

NM_002238.4

p.T432S

c.1294A>T

1 paper

NM_002238.4

p.T432S

c.1295C>G

1 paper

NM_002238.4

p.G438C

c.1312G>T

2 papers

NM_002238.4

p.A443S

c.1327G>T

NM_172362.3

p.A470S

c.1408G>T

1 paper

NM_172362.3

p.A470T

c.1408G>A

1 paper

NM_172362.3

p.S472F

c.1415C>T

1 paper

NM_172362.3

p.T473K

c.1418C>A

1 paper

NM_172362.3

p.E476G

c.1427A>G

1 paper

NM_172362.3

p.A480T

c.1438G>A

1 paper

NM_172362.3

p.A423V

c.1268C>T

1 paper

NM_172362.3

p.Q421H

c.1263A>T