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.A715_V716Splc

c.2146-16C>T

Surrounding Variants

1 paper

NM_000238.4

p.A715_V716Splc

c.2146-15C>T

2 papers

NM_000238.4

p.A715_V716Splc

c.2146-2A>T

1 paper

NM_000238.4

p.A715_V716Splc

c.2146-2A>G

1 paper

NM_000238.4

p.A715_V716Splc

c.2146-2A>C

2 papers

NM_000238.4

p.A715_V716Splc

c.2146-1G>C

1 paper

NM_000238.4

p.V716G

c.2147T>G

2 papers

NM_172057.3

p.V376V

c.1128G>A

NM_000238.4

p.V716V

c.2148G>A

2 papers

NM_000238.4

p.L717P

c.2150T>C

1 paper

NM_000238.4

p.K718_F720del3

c.2152_2159del9

9 papers

NM_000238.4

p.P721L

c.2162C>T

4 papers

NM_000238.4

p.P721R

c.2162C>G

2 papers

NM_000238.4

p.C723G

c.2167T>G