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.K718_F720del3

c.2152_2159del9

Surrounding Variants

9 papers

NM_000238.4

p.P721L

c.2162C>T

4 papers

NM_000238.4

p.P721R

c.2162C>G

2 papers

NM_000238.4

p.C723G

c.2167T>G

1 paper

NM_000238.4

p.C723R

c.2167T>C

2 papers

NM_000238.4

p.C723S

c.2167T>A

2 papers

NM_000238.4

p.C723S

c.2168G>C

1 paper

NM_000238.4

p.C723Y

c.2168G>A

1 paper

NM_000238.4

p.C723*

c.2169C>A

2 papers

NM_000238.4

p.L724fs

c.2170_2171fs

3 papers

NM_000238.4

p.C723_L724insFs

c.2169_2170dupCC

1 paper

NM_000238.4

p.L724P

c.2171T>C

2 papers

NM_000238.4

p.L717P

c.2150T>C