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.K897Fs

c.2690delinsCGACACFs

Surrounding Variants

6 papers

NM_000238.4

p.K897R

c.2690A>G

275 papers

NM_000238.4

p.K897T

c.2690A>C

1 paper

NM_000238.4

p.K897fs

c.2689_2690fs

2 papers

NM_000238.4

p.K897fs

c.2689_2690fs

1 paper

NM_000238.4

p.D896_K897delFs

c.2687_2690del4

1 paper

NM_000238.4

p.K897insFs

c.2689_2690ins5

2 papers

NM_000238.4

p.D898Splc

c.2692+1G>T

1 paper

NM_000238.4

p.R894_D896delFs

c.2680_2686del7

3 papers

NM_000238.4

p.R894_T895insFs

c.2681_2684dup4

1 paper

NM_000238.4

p.D896N

c.2686G>A

3 papers

NM_000238.4

p.D896fs

c.2686_2687fs

1 paper

NM_000238.4

p.T895insFs

c.2684_2685insCC