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.R1005delFs

c.3014delC

Surrounding Variants

5 papers

NM_000238.4

p.G1006fs

c.3016_3017fs

1 paper

NM_000238.4

p.G1006A

c.3017G>C

1 paper

NM_000238.4

p.R1007C

c.3019C>T

1 paper

NM_000238.4

p.R1007fs

c.3019_3020fs

2 papers

NM_000238.4

p.R1007insFs

c.3019dupC

8 papers

NM_000238.4

p.R1007H

c.3020G>A

2 papers

NM_000238.4

p.R1007delFs

c.3019delG

4 papers

NM_000238.4

p.G1006fs

c.3016_3017fs

8 papers

NM_000238.4

p.R1005fs

c.3013_3014fs

1 paper

NM_000238.4

p.R1007fs

c.3019_3020fs

4 papers

NM_000238.4

p.R1005Q

c.3014G>A

2 papers

NM_000238.4

p.Q1008_Y1009insT

c.3022_3026ins3