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.R76S

c.228G>C

Surrounding Variants

1 paper

NM_033272.4

p.R76S

c.228G>T

1 paper

NM_033272.4

p.L69F

c.205C>T

1 paper

NM_033272.4

p.G88W

c.262G>T

1 paper

NM_033272.4

p.T65N

c.194C>A

1 paper

NM_033272.4

p.K62R

c.185A>G

1 paper

NM_033272.4

p.Q61L

c.182A>T

1 paper

NM_033272.4

p.Q61K

c.181C>A

1 paper

NM_033272.4

p.C49Y

c.146G>A

1 paper

NM_033272.4

p.Q37L

c.110A>T

1 paper

NM_033272.4

p.K28R

c.83A>G

1 paper

NM_033272.4

p.K21N

c.63A>T

1 paper

NM_033272.4

p.K21N

c.63A>C