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.R181P

c.542G>C

Surrounding Variants

11 papers

NM_000238.4

p.R181Q

c.542G>A

2 papers

NM_000238.4

p.R181fs

c.541_542fs

2 papers

NM_000238.4

p.R181W

c.541C>T

1 paper

NM_000238.4

p.S182fs

c.544_545fs

2 papers

NM_000238.4

p.S182L

c.545C>T

2 papers

NM_000238.4

p.S182W

c.545C>G

5 papers

NM_000238.4

p.S182*

c.545C>A

1 paper

NM_000238.4

p.S182S

c.546G>T

9 papers

NM_000238.4

p.S182S

c.546G>C

3 papers

NM_000238.4

p.S182S

c.546G>A

1 paper

NM_000238.4

p.S179S

c.537G>A

3 papers

NM_000238.4

p.S179L

c.536C>T