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_002238.4

p.V356E

c.1067T>A

Surrounding Variants

1 paper

NM_002238.4

p.V356A

c.1067T>C

6 papers

NM_172362.3

p.V383L

c.1147G>T

NM_002238.4

p.V356L

c.1066G>T

5 papers

NM_172362.3

p.V383L

c.1147G>C

NM_002238.4

p.V356L

c.1066G>C

1 paper

NM_002238.4

p.C357Y

c.1070G>A

2 papers

NM_002238.4

p.F359L

c.1075T>C

1 paper

NM_002238.4

p.F359Y

c.1076T>A

2 papers

NM_002238.4

p.F359L

c.1077T>G

2 papers

NM_002238.4

p.F359L

c.1077T>A

1 paper

NM_172362.3

p.L379P

c.1136T>C

8 papers

NM_172362.3

p.L379V

c.1135C>G

NM_002238.4

p.L352V

c.1054C>G

1 paper

NM_172362.3

p.A390T

c.1168G>A

8 papers

NM_172362.3

p.G375R

c.1123G>C

NM_002238.4

p.G348R

c.1042G>C