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

3 papers

NM_000238.4

p.N635T

c.1904A>C

Surrounding Variants

6 papers

NM_000238.4

p.N635I

c.1904A>T

3 papers

NM_000238.4

p.N635S

c.1904A>G

3 papers

NM_000238.4

p.N635K

c.1905C>G

3 papers

NM_000238.4

p.N635K

c.1905C>A

5 papers

NM_000238.4

p.N635D

c.1903A>G

1 paper

NM_000238.4

p.T634delFs

c.1902delG

3 papers

NM_000238.4

p.S636A

c.1906T>G

7 papers

NM_000238.4

p.T634I

c.1901C>T

1 paper

NM_000238.4

p.S636L

c.1907C>T

4 papers

NM_000238.4

p.T634S

c.1901C>G

1 paper

NM_000238.4

p.S636*

c.1907C>G

1 paper

NM_000238.4

p.S636*

c.1907C>A