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

1 paper

NM_000238.4

p.L248insFs

c.744dupC

Surrounding Variants

1 paper

NM_000238.4

p.S250A

c.748T>G

1 paper

NM_000238.4

p.S250P

c.748T>C

2 papers

NM_000238.4

p.S250T

c.748T>A

1 paper

NM_000238.4

p.P249L

c.746C>T

1 paper

NM_000238.4

p.S250L

c.749C>T

1 paper

NM_000238.4

p.P249_S250ins9

c.745_749ins27

2 papers

NM_000238.4

p.L248R

c.743T>G

1 paper

NM_000238.4

p.A244_L248delFs

c.730_742del13

7 papers

NM_000238.4

p.P251S

c.751C>T

3 papers

NM_000238.4

p.P251A

c.751C>G

2 papers

NM_000238.4

p.S250_P251delins

c.750_751delinsCT

2 papers

NM_000238.4

p.P251L

c.752C>T