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.L615P

c.1844T>C

Surrounding Variants

9 papers

NM_000238.4

p.L615F

c.1843C>T

17 papers

NM_000238.4

p.L615V

c.1843C>G

1 paper

NM_000238.4

p.L615I

c.1843C>A

2 papers

NM_000238.4

p.Y616N

c.1846T>A

1 paper

NM_000238.4

p.A614A

c.1842G>A

112 papers

NM_000238.4

p.A614V

c.1841C>T

1 paper

NM_000238.4

p.A614delins

c.1840_1841delinsTT

1 paper

NM_000238.4

p.A614delins

c.1840_1841delinsCT

7 papers

NM_000238.4

p.Y616F

c.1847A>T

12 papers

NM_000238.4

p.Y616C

c.1847A>G

2 papers

NM_000238.4

p.Y616S

c.1847A>C

1 paper

NM_000238.4

p.A614S

c.1840G>T