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.D803E

c.2409C>G

Surrounding Variants

1 paper

NM_000238.4

p.D803fs

c.2407_2408fs

1 paper

NM_000238.4

p.D803del1

c.2407_2409delGTC

3 papers

NM_000238.4

p.D803Y

c.2407G>T

1 paper

NM_000238.4

p.N802K

c.2406T>G

1 paper

NM_000238.4

p.N802K

c.2406T>A

45 papers

NM_000238.4

p.F805C

c.2414T>G

8 papers

NM_000238.4

p.F805S

c.2414T>C

1 paper

NM_000238.4

p.G806W

c.2416G>T

2 papers

NM_000238.4

p.G806R

c.2416G>C

2 papers

NM_000238.4

p.G806R

c.2416G>A

3 papers

NM_000238.4

p.K801T

c.2402A>C

2 papers

NM_000238.4

p.G806E

c.2417G>A