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

32 papers

NM_000238.4

p.H70R

c.209A>G

Surrounding Variants

2 papers

NM_000238.4

p.H70Q

c.210C>G

6 papers

NM_000238.4

p.H70N

c.208C>A

1 paper

NM_000238.4

p.H70Q

c.210C>A

9 papers

NM_000238.4

p.G71W

c.211G>T

14 papers

NM_000238.4

p.G71R

c.211G>C

14 papers

NM_000238.4

p.G71R

c.211G>A

7 papers

NM_000238.4

p.L69P

c.206T>C

2 papers

NM_000238.4

p.L69Q

c.206T>A

7 papers

NM_000238.4

p.G71E

c.212G>A

4 papers

NM_000238.4

p.P72S

c.214C>T

11 papers

NM_000238.4

p.F68L

c.204C>G

11 papers

NM_000238.4

p.F68L

c.204C>A