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

4 papers

NM_000238.4

p.E177*

c.529G>T

Surrounding Variants

3 papers

NM_000238.4

p.E177A

c.530A>C

5 papers

NM_000238.4

p.R176insFs

c.526dupC

5 papers

NM_000238.4

p.R176Q

c.527G>A

1 paper

NM_000238.4

p.S178A

c.532T>G

1 paper

NM_000238.4

p.S178P

c.532T>C

2 papers

NM_000238.4

p.R176fs

c.526_527fs

123 papers

NM_000238.4

p.R176W

c.526C>T

1 paper

NM_000238.4

p.R176G

c.526C>G

2 papers

NM_000238.4

p.S178L

c.533C>T

1 paper

NM_000238.4

p.S178W

c.533C>G

1 paper

NM_000238.4

p.S178Fs

c.533delinsGGFs

1 paper

NM_000238.4

p.L171insFs

c.512_513ins13