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.S581*

c.1742C>A

Surrounding Variants

2 papers

NM_000238.4

p.S581L

c.1742C>T

44 papers

NM_000238.4

p.R582C

c.1744C>T

12 papers

NM_000238.4

p.R582L

c.1745G>T

5 papers

NM_000238.4

p.R582P

c.1745G>C

2 papers

NM_000238.4

p.R582H

c.1745G>A

6 papers

NM_000238.4

p.D580A

c.1739A>C

4 papers

NM_000238.4

p.D580H

c.1738G>C

1 paper

NM_000238.4

p.D580N

c.1738G>A

2 papers

NM_000238.4

p.R582fs

c.1744_1745fs

2 papers

NM_000238.4

p.M579I

c.1737G>T

1 paper

NM_000238.4

p.M579fs

c.1735_1736fs

2 papers

NM_000238.4

p.M579I

c.1737G>C