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.P486H

c.1457C>A

Surrounding Variants

1 paper

NM_000238.4

p.P486L

c.1457C>T

4 papers

NM_000238.4

p.P486R

c.1457C>G

1 paper

NM_000238.4

p.P486S

c.1456C>T

1 paper

NM_000238.4

p.P486A

c.1456C>G

2 papers

NM_000238.4

p.P486T

c.1456C>A

1 paper

NM_000238.4

p.G487C

c.1459G>T

6 papers

NM_000238.4

p.G487R

c.1459G>C

6 papers

NM_000238.4

p.G487S

c.1459G>A

2 papers

NM_000238.4

p.H485Q

c.1455C>G

2 papers

NM_000238.4

p.H485Q

c.1455C>A

1 paper

NM_000238.4

p.G487V

c.1460G>T

3 papers

NM_000238.4

p.G487A

c.1460G>C