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.S543*

c.1628C>G

Surrounding Variants

2 papers

NM_000238.4

p.S543A

c.1627T>G

1 paper

NM_000238.4

p.E544*

c.1630G>T

1 paper

NM_000238.4

p.E544Q

c.1630G>C

3 papers

NM_000238.4

p.E544K

c.1630G>A

1 paper

NM_000238.4

p.Y542F

c.1625A>T

8 papers

NM_000238.4

p.Y542C

c.1625A>G

7 papers

NM_000238.4

p.E544A

c.1631A>C

1 paper

NM_000238.4

p.Y542H

c.1624T>C

1 paper

NM_172057.3

p.Y205H

c.613T>C

1 paper

NM_000238.4

p.E544delFs

c.1631_1632delCT

5 papers

NM_000238.4

p.R541H

c.1622G>A

1 paper

NM_000238.4

p.Y545F

c.1634A>T