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

5 papers

NM_000238.4

p.D46Y

c.136G>T

Surrounding Variants

2 papers

NM_000238.4

p.D46H

c.136G>C

9 papers

NM_000238.4

p.D46N

c.136G>A

1 paper

NM_000238.4

p.N45N

c.135C>T

5 papers

NM_000238.4

p.N45K

c.135C>G

1 paper

NM_000238.4

p.N45insFs

c.134dupA

5 papers

NM_000238.4

p.N45K

c.135C>A

2 papers

NM_000238.4

p.D46V

c.137A>T

3 papers

NM_000238.4

p.D46G

c.137A>G

2 papers

NM_000238.4

p.D46A

c.137A>C

1 paper

NM_000238.4

p.D46delFs

c.136delC

5 papers

NM_000238.4

p.D46E

c.138C>G

5 papers

NM_000238.4

p.D46E

c.138C>A