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.H587Y

c.1759C>T

Surrounding Variants

1 paper

NM_000238.4

p.H587D

c.1759C>G

1 paper

NM_000238.4

p.H587N

c.1759C>A

2 papers

NM_000238.4

p.H587P

c.1760A>C

1 paper

NM_000238.4

p.L586P

c.1757T>C

1 paper

NM_000238.4

p.H587Q

c.1761C>G

1 paper

NM_000238.4

p.H587Q

c.1761C>A

3 papers

NM_000238.4

p.L586V

c.1756C>G

8 papers

NM_000238.4

p.L586M

c.1756C>A

1 paper

NM_000238.4

p.W585delFs

c.1755delC

25 papers

NM_000238.4

p.N588D

c.1762A>G

11 papers

NM_000238.4

p.W585C

c.1755G>T

10 papers

NM_000238.4

p.W585C

c.1755G>C