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

12 papers

NM_000238.4

p.S621R

c.1863C>G

Surrounding Variants

12 papers

NM_000238.4

p.S621R

c.1863C>A

1 paper

NM_000238.4

p.S621I

c.1862G>T

14 papers

NM_000238.4

p.S621N

c.1862G>A

12 papers

NM_000238.4

p.L622F

c.1864C>T

2 papers

NM_000238.4

p.L622V

c.1864C>G

1 paper

NM_000238.4

p.L622I

c.1864C>A

1 paper

NM_000238.4

p.L622H

c.1865T>A

1 paper

NM_000238.4

p.S621C

c.1861A>T

13 papers

NM_000238.4

p.S621R

c.1861A>C

3 papers

NM_000238.4

p.S620I

c.1859G>T

88 papers

NM_000238.4

p.S620T

c.1859G>C

7 papers

NM_000238.4

p.S620N

c.1859G>A