Varaico: Literature-Extracted Genetic Variants

KCNH2

2,373 papers

RefSeq Summary

This gene encodes a component of a voltage-activated potassium channel found in cardiac muscle, nerve cells, and microglia. Four copies of this protein interact with one copy of the KCNE2 protein to f...

Pfam Domains

PAS_9aa 29–130UCSCPAS domain

Ion_transaa 407–671UCSCIon transport protein

cNMP_bindingaa 760–845UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 2

HGNC Previous Symbol

LQT2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000238.4

p.A478V

c.1433C>T

Surrounding Variants

1 paper

NM_000238.4

p.A478G

c.1433C>G

1 paper

NM_000238.4

p.A478D

c.1433C>A

1 paper

NM_000238.4

p.A478S

c.1432G>T

1 paper

NM_000238.4

p.A478P

c.1432G>C

1 paper

NM_000238.4

p.A478T

c.1432G>A

1 paper

NM_000238.4

p.N477K

c.1431T>G

1 paper

NM_000238.4

p.N477K

c.1431T>A

1 paper

NM_000238.4

p.N479Y

c.1435A>T

1 paper

NM_000238.4

p.N479D

c.1435A>G

1 paper

NM_000238.4

p.N479H

c.1435A>C

1 paper

NM_000238.4

p.N479I

c.1436A>T

1 paper

NM_000238.4

p.N477I

c.1430A>T