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.V796G

c.2387T>G

Surrounding Variants

1 paper

NM_000238.4

p.V796L

c.2386G>T

1 paper

NM_000238.4

p.V796fs

c.2386_2387fs

1 paper

NM_000238.4

p.V796L

c.2386G>C

1 paper

NM_000238.4

p.V796M

c.2386G>A

1 paper

NM_000238.4

p.A797D

c.2390C>A

2 papers

NM_000238.4

p.V796del1

c.2386_2387delCAC

3 papers

NM_000238.4

p.V795I

c.2383G>A

1 paper

NM_000238.4

p.I798S

c.2393T>G

1 paper

NM_000238.4

p.V794D

c.2381T>A

2 papers

NM_000238.4

p.I798fs

c.2392_2393fs

1 paper

NM_000238.4

p.L799fs

c.2395_2396fs

1 paper

NM_000238.4

p.D793fs

c.2377_2378fs