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.Q75*

c.223C>T

Surrounding Variants

2 papers

NM_000238.4

p.Q75E

c.223C>G

11 papers

NM_000238.4

p.T74M

c.221C>T

6 papers

NM_000238.4

p.T74R

c.221C>G

3 papers

NM_000238.4

p.T74fs

c.220_221fs

1 paper

NM_000238.4

p.Q75_R76insFs

c.225_226ins14

1 paper

NM_000238.4

p.R76fs

c.226_227fs

6 papers

NM_000238.4

p.T74A

c.220A>G

5 papers

NM_000238.4

p.T74P

c.220A>C

3 papers

NM_000238.4

p.R76L

c.227G>T

1 paper

NM_000238.4

p.R76H

c.227G>A

3 papers

NM_000238.4

p.R73fs

c.217_218fs

1 paper

NM_000238.4

p.R73C

c.217C>T