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

13 papers

NM_000238.4

p.F68L

c.202T>C

Surrounding Variants

4 papers

NM_000238.4

p.F68V

c.202T>G

1 paper

NM_000238.4

p.F68I

c.202T>A

2 papers

NM_000238.4

p.F68C

c.203T>G

11 papers

NM_000238.4

p.F68L

c.204C>G

11 papers

NM_000238.4

p.F68L

c.204C>A

2 papers

NM_000238.4

p.D67G

c.200A>G

7 papers

NM_000238.4

p.L69P

c.206T>C

2 papers

NM_000238.4

p.L69Q

c.206T>A

1 paper

NM_000238.4

p.C66W

c.198C>G

4 papers

NM_000238.4

p.C66S

c.197G>C

4 papers

NM_000238.4

p.C66Y

c.197G>A

19 papers

NM_000238.4

p.C66G

c.196T>G