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.V533A

c.1598T>C

Surrounding Variants

2 papers

NM_000238.4

p.V533G

c.1598T>G

3 papers

NM_000238.4

p.V533L

c.1597G>T

3 papers

NM_000238.4

p.V533L

c.1597G>C

2 papers

NM_000238.4

p.V533M

c.1597G>A

1 paper

NM_000238.4

p.L532L

c.1596G>C

61 papers

NM_000238.4

p.R534C

c.1600C>T

3 papers

NM_000238.4

p.R534G

c.1600C>G

1 paper

NM_000238.4

p.V533insFs

c.1599dupG

4 papers

NM_000238.4

p.R534S

c.1600C>A

1 paper

NM_000238.4

p.R534fs

c.1600_1601fs

26 papers

NM_000238.4

p.L532P

c.1595T>C

1 paper

NM_000238.4

p.L532Q

c.1595T>A