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

3 papers

NM_000238.4

p.L889V

c.2665T>G

Surrounding Variants

1 paper

NM_000238.4

p.R885_K888delFs

c.2653_2663del11

9 papers

NM_000238.4

p.S890A

c.2668T>G

1 paper

NM_000238.4

p.S890C

c.2669C>G

1 paper

NM_000238.4

p.R887fs

c.2659_2660fs

1 paper

NM_000238.4

p.R887delFs

c.2660delC

9 papers

NM_000238.4

p.R887H

c.2660G>A

2 papers

NM_000238.4

p.R887C

c.2659C>T

1 paper

NM_000238.4

p.R887G

c.2659C>G

1 paper

NM_000238.4

p.F891fs

c.2671_2672fs

1 paper

NM_000238.4

p.K886fs

c.2656_2657fs

1 paper

NM_000238.4

p.R885_K886delFs

c.2653_2657del5

9 papers

NM_000238.4

p.R892C

c.2674C>T