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

2 papers

NM_000238.4

p.F340Y

c.1019T>A

Surrounding Variants

3 papers

NM_000238.4

p.F340L

c.1020T>G

3 papers

NM_000238.4

p.F340L

c.1018T>C

3 papers

NM_000238.4

p.F340L

c.1020T>A

2 papers

NM_000238.4

p.F340del1

c.1018_1019delAAA

2 papers

NM_000238.4

p.N339K

c.1017C>G

2 papers

NM_000238.4

p.N339K

c.1017C>A

1 paper

NM_000238.4

p.N339Y

c.1015A>T

3 papers

NM_000238.4

p.D342N

c.1024G>A

1 paper

NM_000238.4

p.V341_D342delins

c.1023_1024delinsTT

10 papers

NM_000238.4

p.D342V

c.1025A>T

1 paper

NM_000238.4

p.L338F

c.1012C>T

1 paper

NM_000238.4

p.D342E

c.1026C>A