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

9 papers

NM_000238.4

p.R791W

c.2371C>T

Surrounding Variants

1 paper

NM_000238.4

p.R791Q

c.2372G>A

1 paper

NM_000238.4

p.G792fs

c.2374_2375fs

1 paper

NM_000238.4

p.D774_I789del16

c.2320_2366del48

1 paper

NM_000238.4

p.I789T

c.2366T>C

1 paper

NM_000238.4

p.G792delFs

c.2374_2375delCC

1 paper

NM_000238.4

p.D793N

c.2377G>A

2 papers

NM_000238.4

p.I789F

c.2365A>T

10 papers

NM_000238.4

p.E788D

c.2364G>T

10 papers

NM_000238.4

p.E788D

c.2364G>C

1 paper

NM_000238.4

p.D793fs

c.2377_2378fs

1 paper

NM_000238.4

p.E788A

c.2363A>C

11 papers

NM_000238.4

p.E788K

c.2362G>A