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

3 papers

NM_000238.4

p.R27L

c.80G>T

Surrounding Variants

7 papers

NM_000238.4

p.R27P

c.80G>C

8 papers

NM_000238.4

p.R27H

c.80G>A

1 paper

NM_000238.4

p.R27insFs

c.80_81insGG

1 paper

NM_000238.4

p.R27fs

c.79_80fs

1 paper

NM_000238.4

p.R27delFs

c.80delC

3 papers

NM_000238.4

p.R27C

c.79C>T

2 papers

NM_000238.4

p.R27G

c.79C>G

2 papers

NM_000238.4

p.R27S

c.79C>A

1 paper

NM_000238.4

p.K28fs

c.82_83fs

2 papers

NM_000238.4

p.S26R

c.78C>G

2 papers

NM_000238.4

p.S26R

c.78C>A

1 paper

NM_000238.4

p.S26delins

c.77_78delinsTT