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.I506M

c.1518C>G

Surrounding Variants

1 paper

NM_000238.4

p.I506S

c.1517T>G

2 papers

NM_000238.4

p.I506T

c.1517T>C

2 papers

NM_000238.4

p.I506N

c.1517T>A

5 papers

NM_000238.4

p.P507S

c.1519C>T

3 papers

NM_000238.4

p.P507A

c.1519C>G

4 papers

NM_000238.4

p.P507T

c.1519C>A

6 papers

NM_000238.4

p.P507L

c.1520C>T

2 papers

NM_000238.4

p.P507R

c.1520C>G

2 papers

NM_000238.4

p.P507H

c.1520C>A

1 paper

NM_000238.4

p.I506F

c.1516A>T

3 papers

NM_000238.4

p.I506V

c.1516A>G

1 paper

NM_000238.4

p.I506L

c.1516A>C