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.I500N

c.1499T>A

Surrounding Variants

1 paper

NM_000238.4

p.I500S

c.1499T>G

1 paper

NM_000238.4

p.I500T

c.1499T>C

1 paper

NM_000238.4

p.I500M

c.1500C>G

1 paper

NM_000238.4

p.I500F

c.1498A>T

1 paper

NM_000238.4

p.I500V

c.1498A>G

1 paper

NM_000238.4

p.I500L

c.1498A>C

3 papers

NM_000238.4

p.D501Y

c.1501G>T

11 papers

NM_000238.4

p.D501H

c.1501G>C

29 papers

NM_000238.4

p.D501N

c.1501G>A

NM_001204798.2

p.D161N

c.481G>A

3 papers

NM_000238.4

p.L499R

c.1496T>G

9 papers

NM_000238.4

p.L499P

c.1496T>C

1 paper

NM_000238.4

p.L499H

c.1496T>A