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

5 papers

NM_000238.4

p.R883Q

c.2648G>A

Surrounding Variants

1 paper

NM_000238.4

p.R883W

c.2647C>T

2 papers

NM_000238.4

p.Q884*

c.2650C>T

15 papers

NM_000238.4

p.R885C

c.2653C>T

2 papers

NM_000238.4

p.R885fs

c.2653_2654fs

3 papers

NM_000238.4

p.R885H

c.2654G>A

1 paper

NM_000238.4

p.R885delFs

c.2654delC

2 papers

NM_000238.4

p.G880V

c.2639G>T

1 paper

NM_000238.4

p.G879_G880delFs

c.2637_2638delCA

1 paper

NM_000238.4

p.K886fs

c.2656_2657fs

1 paper

NM_000238.4

p.R885_K886delFs

c.2653_2657del5

1 paper

NM_000238.4

p.G880fs

c.2638_2639fs

1 paper

NM_000238.4

p.G879fs

c.2635_2636fs