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.F463Y

c.1388T>A

Surrounding Variants

15 papers

NM_000238.4

p.F463L

c.1387T>C

14 papers

NM_000238.4

p.F463L

c.1389C>G

1 paper

NM_000238.4

p.F463_I464insFs

c.1389_1390insT

14 papers

NM_000238.4

p.F463L

c.1389C>A

2 papers

NM_000238.4

p.I464T

c.1391T>C

2 papers

NM_000238.4

p.M462T

c.1385T>C

1 paper

NM_000238.4

p.I464delFs

c.1390delT

2 papers

NM_000238.4

p.M462V

c.1384A>G

2 papers

NM_000238.4

p.V465M

c.1393G>A

1 paper

NM_000238.4

p.I461_M462insFs

c.1383_1384insA

2 papers

NM_000238.4

p.V465A

c.1394T>C

1 paper

NM_000238.4

p.I461L

c.1381A>C