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.S484R

c.1452C>A

Surrounding Variants

1 paper

NM_000238.4

p.S484R

c.1452C>G

1 paper

NM_000238.4

p.S484I

c.1451G>T

1 paper

NM_000238.4

p.S484T

c.1451G>C

1 paper

NM_000238.4

p.S484N

c.1451G>A

3 papers

NM_000238.4

p.H485Y

c.1453C>T

1 paper

NM_000238.4

p.H485D

c.1453C>G

1 paper

NM_000238.4

p.H485N

c.1453C>A

1 paper

NM_000238.4

p.H485fs

c.1453_1454fs

1 paper

NM_000238.4

p.H485L

c.1454A>T

1 paper

NM_000238.4

p.S484C

c.1450A>T

1 paper

NM_000238.4

p.H485R

c.1454A>G

1 paper

NM_000238.4

p.S484G

c.1450A>G