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.I583insFs

c.1747_1748insGC

Surrounding Variants

8 papers

NM_000238.4

p.I583V

c.1747A>G

2 papers

NM_000238.4

p.I583L

c.1747A>C

1 paper

NM_000238.4

p.R582del1

c.1744_1745delGCG

1 paper

NM_000238.4

p.H578_R582del0

c.1732_1746del15

1 paper

NM_172057.3

p.E235_R242del8

c.703_725del24

2 papers

NM_000238.4

p.R582fs

c.1744_1745fs

12 papers

NM_000238.4

p.R582L

c.1745G>T

5 papers

NM_000238.4

p.R582P

c.1745G>C

2 papers

NM_000238.4

p.R582H

c.1745G>A

3 papers

NM_000238.4

p.I583M

c.1749C>G

12 papers

NM_000238.4

p.G584C

c.1750G>T

8 papers

NM_000238.4

p.G584R

c.1750G>C