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

8 papers

NM_000238.4

p.Y493F

c.1478A>T

Surrounding Variants

15 papers

NM_000238.4

p.Y493C

c.1478A>G

5 papers

NM_000238.4

p.Y493S

c.1478A>C

1 paper

NM_000238.4

p.Y493D

c.1477T>G

9 papers

NM_000238.4

p.Y493H

c.1477T>C

1 paper

NM_000238.4

p.Y493N

c.1477T>A

9 papers

NM_000238.4

p.Y493*

c.1479C>G

9 papers

NM_000238.4

p.Y493*

c.1479C>A

1 paper

NM_000238.4

p.F494V

c.1480T>G

1 paper

NM_000238.4

p.F494L

c.1480T>C

1 paper

NM_000238.4

p.F494I

c.1480T>A

2 papers

NM_000238.4

p.H492Q

c.1476C>G

2 papers

NM_000238.4

p.H492Q

c.1476C>A