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.I642I

c.1926C>T

Surrounding Variants

1 paper

NM_000238.4

p.I642M

c.1926C>G

1 paper

NM_000238.4

p.I642S

c.1925T>G

1 paper

NM_000238.4

p.I642N

c.1925T>A

4 papers

NM_000238.4

p.I642F

c.1924A>T

2 papers

NM_000238.4

p.I642V

c.1924A>G

9 papers

NM_000238.4

p.V644F

c.1930G>T

6 papers

NM_000238.4

p.V644L

c.1930G>C

1 paper

NM_000238.4

p.V644I

c.1930G>A

11 papers

NM_000238.4

p.S641F

c.1922C>T

3 papers

NM_000238.4

p.S641C

c.1922C>G

8 papers

NM_000238.4

p.I639_F640del1

c.1916_1918delAGA

12 papers

NM_000238.4

p.S641A

c.1921T>G