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.L167P

c.500T>C

Surrounding Variants

3 papers

NM_000238.4

p.L167V

c.499C>G

2 papers

NM_000238.4

p.K166N

c.498G>T

3 papers

NM_000238.4

p.K166N

c.498G>C

2 papers

NM_000238.4

p.P168L

c.503C>T

2 papers

NM_000238.4

p.K166M

c.497A>T

1 paper

NM_000238.4

p.K166E

c.496A>G

1 paper

NM_000238.4

p.L165L

c.495G>C

1 paper

NM_000238.4

p.L165R

c.494T>G

1 paper

NM_000238.4

p.L165Q

c.494T>A

1 paper

NM_000238.4

p.A169delFs

c.506delG

1 paper

NM_000238.4

p.L170V

c.508C>G

11 papers

NM_000238.4

p.R164H

c.491G>A