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.A824delFs

c.2470delC

Surrounding Variants

2 papers

NM_000238.4

p.A824insFs

c.2471_2472insG

2 papers

NM_000238.4

p.R823fs

c.2467_2468fs

1 paper

NM_000238.4

p.R823P

c.2468G>C

5 papers

NM_000238.4

p.R823Q

c.2468G>A

40 papers

NM_000238.4

p.R823W

c.2467C>T

2 papers

NM_000238.4

p.T826A

c.2476A>G

6 papers

NM_000238.4

p.T826I

c.2477C>T

3 papers

NM_000238.4

p.V822L

c.2464G>T

3 papers

NM_000238.4

p.V822L

c.2464G>C

55 papers

NM_000238.4

p.V822M

c.2464G>A

1 paper

NM_000238.4

p.C828G

c.2482T>G

2 papers

NM_000238.4

p.C828S

c.2482T>A