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.R242delFs

c.724delG

Surrounding Variants

2 papers

NM_000238.4

p.R242H

c.725G>A

4 papers

NM_000238.4

p.R242C

c.724C>T

5 papers

NM_000238.4

p.R242G

c.724C>G

1 paper

NM_000238.4

p.R242S

c.724C>A

2 papers

NM_000238.4

p.R242delins

c.725_726delinsAA

1 paper

NM_000238.4

p.P241P

c.723C>G

1 paper

NM_000238.4

p.P241fs

c.721_722fs

1 paper

NM_000238.4

p.P241P

c.723C>A

1 paper

NM_000238.4

p.P240del1

c.718_720delCGG

1 paper

NM_000238.4

p.S243C

c.727A>T

2 papers

NM_000238.4

p.S243R

c.727A>C

1 paper

NM_000238.4

p.S243_A244ins8

c.727_731ins24