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

2 papers

NM_000238.4

p.K28M

c.83A>T

Surrounding Variants

2 papers

NM_000238.4

p.K28R

c.83A>G

2 papers

NM_000238.4

p.K28T

c.83A>C

2 papers

NM_000238.4

p.K28N

c.84G>T

2 papers

NM_000238.4

p.K28N

c.84G>C

1 paper

NM_000238.4

p.K28fs

c.82_83fs

1 paper

NM_000238.4

p.K28*

c.82A>T

19 papers

NM_000238.4

p.K28E

c.82A>G

2 papers

NM_000238.4

p.K28Q

c.82A>C

1 paper

NM_000238.4

p.K28insFs

c.82_83insT

2 papers

NM_000238.4

p.R27delFs

c.81delA

1 paper

NM_000238.4

p.R27insFs

c.80_81insGG

1 paper

NM_000238.4

p.R27fs

c.79_80fs