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

17 papers

NM_000238.4

p.P334L

c.1001C>T

Surrounding Variants

2 papers

NM_000238.4

p.P334S

c.1000C>T

2 papers

NM_000238.4

p.Q335*

c.1003C>T

1 paper

NM_000238.4

p.I333V

c.997A>G

1 paper

NM_000238.4

p.K332N

c.996G>T

1 paper

NM_000238.4

p.K332N

c.996G>C

2 papers

NM_000238.4

p.K332R

c.995A>G

2 papers

NM_000238.4

p.I336_T337insFs

c.1008_1009insT

1 paper

NM_000238.4

p.I336fs

c.1006_1007fs

2 papers

NM_000238.4

p.T337fs

c.1009_1010fs

3 papers

NM_000238.4

p.T337S

c.1009A>T

2 papers

NM_000238.4

p.T337A

c.1009A>G

2 papers

NM_000238.4

p.I336delFs

c.1008delG