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.P240L

c.719C>T

Surrounding Variants

2 papers

NM_000238.4

p.S239_P240delFs

c.715_719del5

1 paper

NM_000238.4

p.P240A

c.718C>G

2 papers

NM_000238.4

p.P241S

c.721C>T

8 papers

NM_000238.4

p.P241L

c.722C>T

1 paper

NM_000238.4

p.S239F

c.716C>T

1 paper

NM_000238.4

p.P241R

c.722C>G

1 paper

NM_000238.4

p.P241H

c.722C>A

3 papers

NM_000238.4

p.S239P

c.715T>C

1 paper

NM_000238.4

p.S239fs

c.715_716fs

1 paper

NM_000238.4

p.P241P

c.723C>G

1 paper

NM_000238.4

p.P241fs

c.721_722fs

1 paper

NM_000238.4

p.P241P

c.723C>A