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.N38ins2

c.113_114ins6

Surrounding Variants

3 papers

NM_000238.4

p.N38K

c.114C>G

3 papers

NM_000238.4

p.N38K

c.114C>A

4 papers

NM_000238.4

p.C39G

c.115T>G

6 papers

NM_000238.4

p.C39R

c.115T>C

2 papers

NM_000238.4

p.C39S

c.115T>A

2 papers

NM_000238.4

p.N38I

c.113A>T

2 papers

NM_000238.4

p.N38S

c.113A>G

2 papers

NM_000238.4

p.N38T

c.113A>C

2 papers

NM_000238.4

p.C39F

c.116G>T

2 papers

NM_000238.4

p.C39S

c.116G>C

2 papers

NM_000238.4

p.C39Y

c.116G>A

2 papers

NM_000238.4

p.N38Y

c.112A>T