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.P191L

c.572C>T

Surrounding Variants

1 paper

NM_000238.4

p.P191ins2

c.571_572ins6

1 paper

NM_000238.4

p.P191delFs

c.572delG

1 paper

NM_000238.4

p.P191fs

c.571_572fs

1 paper

NM_000238.4

p.P191A

c.571C>G

1 paper

NM_000238.4

p.P191T

c.571C>A

1 paper

NM_000238.4

p.A190del1

c.568_569delGGC

1 paper

NM_000238.4

p.A190_P191ins3

c.570_571ins9

1 paper

NM_000238.4

p.G192A

c.575G>C

1 paper

NM_000238.4

p.A190V

c.569C>T

1 paper

NM_000238.4

p.A190ins3

c.569_570ins9

4 papers

NM_000238.4

p.G187_A190del0

c.560_568del9

2 papers

NM_000238.4

p.A190S

c.568G>T