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

1–12 of 135 variants

10 papers

NM_033272.4

p.R394H

c.1181G>A

3 papers

NM_033272.4

p.D320N

c.958G>A

3 papers

NM_033272.4

p.G958A

c.2873G>C

2 papers

NM_033272.4

p.D909N

c.2725G>A

2 papers

NM_033272.4

p.E1023K

c.3067G>A

2 papers

NM_033272.4

p.D1025E

c.3075C>G

2 papers

NM_033272.4

p.D1025E

c.3075C>A

2 papers

NM_033272.4

p.K1098R

c.3293A>G

1 paper

NM_033272.4

p.K21N

c.63A>T

1 paper

NM_033272.4

p.K21N

c.63A>C

1 paper

NM_033272.4

p.K28R

c.83A>G

1 paper

NM_033272.4

p.Q37L

c.110A>T