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.Q421H

c.1263A>T

Surrounding Variants

1 paper

NM_172362.3

p.Q421H

c.1263A>C

1 paper

NM_172362.3

p.A423V

c.1268C>T

1 paper

NM_172362.3

p.D409D

c.1227C>T

4 papers

NM_172362.3

p.I400T

c.1199T>C

1 paper

NM_172362.3

p.S445T

c.1334G>C

1 paper

NM_172362.3

p.W392R

c.1174T>C

1 paper

NM_172362.3

p.W392R

c.1174T>A

1 paper

NM_172362.3

p.I451M

c.1353C>G

1 paper

NM_172362.3

p.A390T

c.1168G>A

2 papers

NM_002238.4

p.F359L

c.1077T>G

2 papers

NM_002238.4

p.F359L

c.1077T>A

1 paper

NM_002238.4

p.F359Y

c.1076T>A