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.P297fs

c.889_890fs

Surrounding Variants

10 papers

NM_000238.4

p.P297S

c.889C>T

1 paper

NM_000238.4

p.L296delFs

c.888delC

1 paper

NM_000238.4

p.L296L

c.888G>C

1 paper

NM_000238.4

p.L296Fs

c.888delinsAAFs

2 papers

NM_000238.4

p.P297R

c.890C>G

1 paper

NM_000238.4

p.V295fs

c.883_884fs

1 paper

NM_000238.4

p.P298L

c.893C>T

1 paper

NM_000238.4

p.P298insFs

c.893_894insA

1 paper

NM_000238.4

p.V295insFs

c.883dupG

1 paper

NM_000238.4

p.V295A

c.884T>C

2 papers

NM_000238.4

p.G294delFs

c.880delC

3 papers

NM_000238.4

p.P298P

c.894G>T