Varaico: Literature-Extracted Genetic Variants

KCNH7

119 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 29–134UCSCPAS domain

Ion_transaa 407–674UCSCIon transport protein

cNMP_bindingaa 763–848UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 7

HGNC Alias Symbols

Kv11.3; HERG3; erg3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_033272.4

p.M461T

c.1382T>C

Surrounding Variants

1 paper

NM_033272.4

p.I464T

c.1391T>C

1 paper

NM_033272.4

p.I457T

c.1370T>C

1 paper

NM_033272.4

p.V454A

c.1361T>C

1 paper

NM_033272.4

p.N478K

c.1434T>G

1 paper

NM_033272.4

p.N478K

c.1434T>A

1 paper

NM_033272.4

p.E480G

c.1439A>G

1 paper

NM_033272.4

p.R442*

c.1324C>T

1 paper

NM_033272.4

p.V482_S483insC

c.1444_1448ins3

1 paper

NM_033272.4

p.V482_S483ins12

c.1444_1448ins36

1 paper

NM_033272.4

p.K487N

c.1461A>T

1 paper

NM_033272.4

p.K487N

c.1461A>C

1 paper

NM_033272.4

p.K494N

c.1482A>T