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.K434*

c.1300A>T

Surrounding Variants

2 papers

NM_000238.4

p.L433P

c.1298T>C

2 papers

NM_000238.4

p.E435K

c.1303G>A

1 paper

NM_000238.4

p.E435fs

c.1303_1304fs

1 paper

NM_000238.4

p.E435Fs

c.1304delinsTCTFs

3 papers

NM_172057.3

p.E95G

c.284A>G

NM_000238.4

p.E435G

c.1304A>G

3 papers

NM_000238.4

p.E435A

c.1304A>C

1 paper

NM_000238.4

p.T425ins7

c.1274_1275ins21

1 paper

NM_000238.4

p.T436A

c.1306A>G

16 papers

NM_000238.4

p.T436M

c.1307C>T

5 papers

NM_000238.4

p.F431L

c.1293C>G

1 paper

NM_000238.4

p.F431_L432insFs

c.1293_1294insG

5 papers

NM_000238.4

p.F431L

c.1293C>A