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.A285T

c.853G>A

Surrounding Variants

2 papers

NM_000238.4

p.A285S

c.853G>T

2 papers

NM_000238.4

p.A285V

c.854C>T

1 paper

NM_000238.4

p.S284P

c.850T>C

1 paper

NM_000238.4

p.S284fs

c.850_851fs

1 paper

NM_000238.4

p.S283L

c.848C>T

1 paper

NM_000238.4

p.S283*

c.848C>A

4 papers

NM_000238.4

p.S283A

c.847T>G

2 papers

NM_000238.4

p.D287N

c.859G>A

1 paper

NM_000238.4

p.A282_D286delFs

c.845_857del13

2 papers

NM_000238.4

p.D287fs

c.859_860fs

1 paper

NM_000238.4

p.D287G

c.860A>G

1 paper

NM_000238.4

p.D287insFs

c.859_860ins7