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

1 paper

NM_000238.4

p.G1031fs

c.3091_3092fs

Surrounding Variants

2 papers

NM_000238.4

p.G1031_R1032insFs

c.3093_3094insG

1 paper

NM_000238.4

p.G1031insFs

c.3092_3093ins5

3 papers

NM_000238.4

p.G1031fs

c.3091_3092fs

2 papers

NM_000238.4

p.G1031delFs

c.3092delC

1 paper

NM_000238.4

p.G1031delFs

c.3091_3092delCC

1 paper

NM_000238.4

p.P1030L

c.3089C>T

2 papers

NM_000238.4

p.R1032fs

c.3094_3095fs

5 papers

NM_000238.4

p.R1032W

c.3094C>T

NM_172057.3

p.R692W

c.2074C>T

1 paper

NM_000238.4

p.P1030T

c.3088C>A

1 paper

NM_000238.4

p.R1032P

c.3095G>C

3 papers

NM_172057.3

p.R692Q

c.2075G>A

NM_000238.4

p.R1032Q

c.3095G>A

2 papers

NM_000238.4

p.S1029fs

c.3085_3086fs