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

5 papers

NM_000238.4

p.V841L

c.2521G>T

Surrounding Variants

5 papers

NM_000238.4

p.V841L

c.2521G>C

2 papers

NM_000238.4

p.L838L

c.2514G>T

1 paper

NM_000238.4

p.L838R

c.2513T>G

2 papers

NM_000238.4

p.M844I

c.2532G>T

2 papers

NM_000238.4

p.M844I

c.2532G>C

2 papers

NM_000238.4

p.M844I

c.2532G>A

9 papers

NM_000238.4

p.D837G

c.2510A>G

3 papers

NM_000238.4

p.Y845D

c.2533T>G

4 papers

NM_000238.4

p.D837Y

c.2509G>T

1 paper

NM_000238.4

p.D837H

c.2509G>C

7 papers

NM_000238.4

p.D837N

c.2509G>A

1 paper

NM_000238.4

p.Y845fs

c.2533_2534fs