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

2 papers

NM_000238.4

p.T623N

c.1868C>A

Surrounding Variants

13 papers

NM_000238.4

p.T623I

c.1868C>T

2 papers

NM_000238.4

p.T623S

c.1868C>G

2 papers

NM_000238.4

p.T623S

c.1867A>T

39 papers

NM_000238.4

p.T623A

c.1867A>G

5 papers

NM_000238.4

p.S624C

c.1870A>T

1 paper

NM_000238.4

p.S624G

c.1870A>G

2 papers

NM_000238.4

p.S624R

c.1870A>C

1 paper

NM_000238.4

p.S624insFs

c.1870_1871insC

1 paper

NM_000238.4

p.L622H

c.1865T>A

1 paper

NM_000238.4

p.S624I

c.1871G>T

11 papers

NM_000238.4

p.S624T

c.1871G>C

3 papers

NM_000238.4

p.S624N

c.1871G>A