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.G516A

c.1547G>C

Surrounding Variants

1 paper

NM_000238.4

p.G516V

c.1547G>T

1 paper

NM_000238.4

p.G516D

c.1547G>A

3 papers

NM_000238.4

p.G516C

c.1546G>T

1 paper

NM_000238.4

p.G516R

c.1546G>C

1 paper

NM_000238.4

p.G516S

c.1546G>A

1 paper

NM_000238.4

p.S517A

c.1549T>G

1 paper

NM_000238.4

p.S517P

c.1549T>C

1 paper

NM_000238.4

p.S517T

c.1549T>A

1 paper

NM_000238.4

p.S517F

c.1550C>T

1 paper

NM_000238.4

p.S515F

c.1544C>T

2 papers

NM_000238.4

p.S517C

c.1550C>G

1 paper

NM_000238.4

p.S515C

c.1544C>G