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

103 papers

NM_000238.4

p.N470D

c.1408A>G

Surrounding Variants

2 papers

NM_000238.4

p.I469S

c.1406T>G

1 paper

NM_000238.4

p.N470K

c.1410C>G

1 paper

NM_000238.4

p.N470K

c.1410C>A

1 paper

NM_000238.4

p.L468insFs

c.1403_1404insC

2 papers

NM_000238.4

p.L468R

c.1403T>G

1 paper

NM_000238.4

p.F471fs

c.1411_1412fs

2 papers

NM_000238.4

p.L468F

c.1402C>T

1 paper

NM_000238.4

p.R472C

c.1414C>T

2 papers

NM_000238.4

p.M462_I467ins2

c.1384_1401dup18

1 paper

NM_000238.4

p.L468_I469ins4

c.1402_1406ins12

1 paper

NM_000238.4

p.R472fs

c.1414_1415fs

3 papers

NM_000238.4

p.R472P

c.1415G>C