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

3 papers

NM_033272.4

p.D320N

c.958G>A

Surrounding Variants

1 paper

NM_033272.4

p.S313R

c.939C>G

1 paper

NM_033272.4

p.S349*

c.1046C>G

1 paper

NM_033272.4

p.S349*

c.1046C>A

1 paper

NM_033272.4

p.S349S

c.1047A>G

1 paper

NM_033272.4

p.T357P

c.1069A>C

1 paper

NM_033272.4

p.K362E

c.1084A>G

1 paper

NM_033272.4

p.K364*

c.1090A>T

1 paper

NM_033272.4

p.R366*

c.1096C>T

1 paper

NM_033272.4

p.V374M

c.1120G>A