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

6 papers

NM_000238.4

p.S818W

c.2453C>G

Surrounding Variants

46 papers

NM_000238.4

p.S818L

c.2453C>T

1 paper

NM_000238.4

p.S818*

c.2453C>A

7 papers

NM_000238.4

p.S818P

c.2452T>C

2 papers

NM_000238.4

p.S818S

c.2454G>T

1 paper

NM_000238.4

p.N819K

c.2457C>G

1 paper

NM_000238.4

p.N819K

c.2457C>A

1 paper

NM_000238.4

p.K817E

c.2449A>G

7 papers

NM_000238.4

p.G820R

c.2458G>C

7 papers

NM_000238.4

p.G820R

c.2458G>A

9 papers

NM_000238.4

p.G816V

c.2447G>T

2 papers

NM_000238.4

p.G820E

c.2459G>A

4 papers

NM_000238.4

p.P815L

c.2444C>T