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

4 papers

NM_000238.4

p.S320W

c.959C>G

Surrounding Variants

12 papers

NM_000238.4

p.S320L

c.959C>T

3 papers

NM_000238.4

p.S320*

c.959C>A

2 papers

NM_000238.4

p.D321Y

c.961G>T

2 papers

NM_000238.4

p.D321H

c.961G>C

2 papers

NM_000238.4

p.S318del1

c.952_953delGGA

1 paper

NM_000238.4

p.S322A

c.964T>G

2 papers

NM_000238.4

p.S322F

c.965C>T

1 paper

NM_000238.4

p.L311_S318delFs

c.933_952del20

1 paper

NM_000238.4

p.D323H

c.967G>C

4 papers

NM_000238.4

p.D323N

c.967G>A

2 papers

NM_000238.4

p.N317S

c.950A>G

2 papers

NM_000238.4

p.D323E

c.969C>G