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.G192delFs

c.576delC

Surrounding Variants

4 papers

NM_000238.4

p.A193V

c.578C>T

1 paper

NM_000238.4

p.A193fs

c.577_578fs

1 paper

NM_000238.4

p.V194L

c.580G>T

2 papers

NM_000238.4

p.G189_G192ins1

c.567_575dup9

3 papers

NM_000238.4

p.G192fs

c.574_575fs

2 papers

NM_000238.4

p.V194L

c.580G>C

1 paper

NM_000238.4

p.G192G

c.576G>C

3 papers

NM_000238.4

p.V194M

c.580G>A

1 paper

NM_000238.4

p.G189_G192del0

c.567_575del9

1 paper

NM_000238.4

p.G192A

c.575G>C

1 paper

NM_000238.4

p.A193_V194delFs

c.578_582del5

1 paper

NM_000238.4

p.P191delFs

c.572delG