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

8 papers

NM_000238.4

p.D540A

c.1619A>C

Surrounding Variants

1 paper

NM_000238.4

p.D540N

c.1618G>A

1 paper

NM_000238.4

p.L539del1

c.1615_1616delCAG

9 papers

NM_000238.4

p.L539fs

c.1615_1616fs

6 papers

NM_000238.4

p.R541C

c.1621C>T

5 papers

NM_000238.4

p.R541H

c.1622G>A

3 papers

NM_000238.4

p.L539L

c.1615C>T

1 paper

NM_000238.4

p.Y542H

c.1624T>C

1 paper

NM_000238.4

p.Y542F

c.1625A>T

8 papers

NM_000238.4

p.Y542C

c.1625A>G

2 papers

NM_000238.4

p.K538R

c.1613A>G

2 papers

NM_000238.4

p.K538E

c.1612A>G

3 papers

NM_000238.4

p.K538Q

c.1612A>C