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

3 papers

NM_000238.4

p.N33S

c.98A>G

Surrounding Variants

2 papers

NM_000238.4

p.N33I

c.98A>T

28 papers

NM_000238.4

p.N33T

c.98A>C

2 papers

NM_000238.4

p.N33K

c.99C>G

2 papers

NM_000238.4

p.N33K

c.99C>A

2 papers

NM_000238.4

p.N33Y

c.97A>T

3 papers

NM_000238.4

p.N33D

c.97A>G

2 papers

NM_000238.4

p.N33H

c.97A>C

1 paper

NM_000238.4

p.A32delFs

c.95delG

2 papers

NM_000238.4

p.A34S

c.100G>T

1 paper

NM_000238.4

p.A34insFs

c.100_101insC

2 papers

NM_000238.4

p.A34P

c.100G>C

3 papers

NM_000238.4

p.A34T

c.100G>A