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.M844I

c.2532G>T

Surrounding Variants

2 papers

NM_000238.4

p.M844I

c.2532G>C

2 papers

NM_000238.4

p.M844I

c.2532G>A

3 papers

NM_000238.4

p.Y845D

c.2533T>G

1 paper

NM_000238.4

p.Y845fs

c.2533_2534fs

1 paper

NM_000238.4

p.M844_Y845delins

c.2532_2535delinsTTAA

6 papers

NM_000238.4

p.P846S

c.2536C>T

3 papers

NM_000238.4

p.P846A

c.2536C>G

8 papers

NM_000238.4

p.P846T

c.2536C>A

3 papers

NM_000238.4

p.P846L

c.2537C>T

3 papers

NM_000238.4

p.E847K

c.2539G>A

1 paper

NM_000238.4

p.E847A

c.2540A>C

5 papers

NM_000238.4

p.V841L

c.2521G>T