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.I512L

c.1534A>C

Surrounding Variants

1 paper

NM_000238.4

p.I512F

c.1534A>T

1 paper

NM_000238.4

p.I512V

c.1534A>G

1 paper

NM_000238.4

p.I512_F513ins13

c.1534_1538ins39

1 paper

NM_000238.4

p.I512S

c.1535T>G

1 paper

NM_000238.4

p.I512T

c.1535T>C

1 paper

NM_000238.4

p.I512N

c.1535T>A

1 paper

NM_000238.4

p.L511R

c.1532T>G

1 paper

NM_000238.4

p.L511P

c.1532T>C

2 papers

NM_000238.4

p.L511H

c.1532T>A

1 paper

NM_000238.4

p.I512M

c.1536C>G

1 paper

NM_000238.4

p.F513V

c.1537T>G

3 papers

NM_000238.4

p.F513L

c.1537T>C