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.A40G

c.119C>G

Surrounding Variants

5 papers

NM_000238.4

p.A40V

c.119C>T

2 papers

NM_000238.4

p.A40D

c.119C>A

2 papers

NM_000238.4

p.A40S

c.118G>T

2 papers

NM_000238.4

p.A40P

c.118G>C

2 papers

NM_000238.4

p.A40T

c.118G>A

10 papers

NM_000238.4

p.V41F

c.121G>T

4 papers

NM_000238.4

p.V41L

c.121G>C

5 papers

NM_000238.4

p.V41I

c.121G>A

2 papers

NM_000238.4

p.C39W

c.117C>G

5 papers

NM_000238.4

p.C39*

c.117C>A

3 papers

NM_000238.4

p.V41G

c.122T>G

10 papers

NM_000238.4

p.V41A

c.122T>C