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.C44delins

c.131_132delinsTT

Surrounding Variants

6 papers

NM_000238.4

p.C44W

c.132C>G

7 papers

NM_000238.4

p.C44*

c.132C>A

8 papers

NM_000238.4

p.C44F

c.131G>T

2 papers

NM_000238.4

p.C44S

c.131G>C

5 papers

NM_000238.4

p.C44Y

c.131G>A

6 papers

NM_000238.4

p.N45Y

c.133A>T

13 papers

NM_000238.4

p.N45D

c.133A>G

2 papers

NM_000238.4

p.N45H

c.133A>C

4 papers

NM_000238.4

p.C44G

c.130T>G

2 papers

NM_000238.4

p.C44R

c.130T>C

2 papers

NM_000238.4

p.C44S

c.130T>A

2 papers

NM_000238.4

p.N45I

c.134A>T