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.F29insFs

c.87dupC

Surrounding Variants

3 papers

NM_000238.4

p.I30F

c.88A>T

2 papers

NM_000238.4

p.I30V

c.88A>G

3 papers

NM_000238.4

p.I30L

c.88A>C

2 papers

NM_000238.4

p.I30S

c.89T>G

8 papers

NM_000238.4

p.I30T

c.89T>C

2 papers

NM_000238.4

p.I30N

c.89T>A

47 papers

NM_000238.4

p.F29L

c.87C>G

48 papers

NM_000238.4

p.F29L

c.87C>A

2 papers

NM_000238.4

p.F29C

c.86T>G

6 papers

NM_000238.4

p.F29S

c.86T>C

2 papers

NM_000238.4

p.F29Y

c.86T>A

2 papers

NM_000238.4

p.I30M

c.90C>G