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.Y447H

c.1339T>C

Surrounding Variants

1 paper

NM_000238.4

p.G446_Y447insFs

c.1338_1339insC

1 paper

NM_000238.4

p.Y447C

c.1340A>G

1 paper

NM_000238.4

p.C445_G446delFs

c.1335_1336delCA

3 papers

NM_000238.4

p.Y447*

c.1341C>G

4 papers

NM_000238.4

p.Y447*

c.1341C>A

3 papers

NM_000238.4

p.A448S

c.1342G>T

5 papers

NM_000238.4

p.A448T

c.1342G>A

2 papers

NM_000238.4

p.A448G

c.1343C>G

1 paper

NM_000238.4

p.C445Y

c.1334G>A

1 paper

NM_000238.4

p.C445_G446insC

c.1333_1337ins3

1 paper

NM_000238.4

p.C449S

c.1345T>A

14 papers

NM_000238.4

p.E444D

c.1332G>T