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

35 papers

NM_000238.4

p.N629S

c.1886A>G

Surrounding Variants

7 papers

NM_000238.4

p.N629I

c.1886A>T

8 papers

NM_000238.4

p.N629T

c.1886A>C

2 papers

NM_000238.4

p.N629N

c.1887C>T

12 papers

NM_000238.4

p.N629K

c.1887C>G

12 papers

NM_000238.4

p.N629K

c.1887C>A

49 papers

NM_000238.4

p.N629D

c.1885A>G

1 paper

NM_000238.4

p.N629H

c.1885A>C

2 papers

NM_000238.4

p.G628del1

c.1882_1883delGCC

29 papers

NM_000238.4

p.V630L

c.1888G>C

11 papers

NM_000238.4

p.V630I

c.1888G>A

1 paper

NM_000238.4

p.N629delFs

c.1887delG

3 papers

NM_000238.4

p.V630G

c.1889T>G