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.T399M

c.1196C>T

Surrounding Variants

1 paper

NM_033272.4

p.I400K

c.1199T>A

1 paper

NM_033272.4

p.H402Q

c.1206C>G

1 paper

NM_033272.4

p.H402Q

c.1206C>A

1 paper

NM_033272.4

p.I395M

c.1185C>G

10 papers

NM_033272.4

p.R394H

c.1181G>A

1 paper

NM_033272.4

p.R394S

c.1180C>A

1 paper

NM_033272.4

p.E387A

c.1160A>C

1 paper

NM_033272.4

p.Y420C

c.1259A>G

1 paper

NM_033272.4

p.I423K

c.1268T>A

1 paper

NM_033272.4

p.R442*

c.1324C>T

1 paper

NM_033272.4

p.V454A

c.1361T>C

1 paper

NM_033272.4

p.I457T

c.1370T>C