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.V476D

c.1427T>A

Surrounding Variants

1 paper

NM_000238.4

p.V476G

c.1427T>G

1 paper

NM_000238.4

p.V476A

c.1427T>C

1 paper

NM_000238.4

p.V476F

c.1426G>T

2 papers

NM_000238.4

p.V476L

c.1426G>C

10 papers

NM_000238.4

p.V476I

c.1426G>A

3 papers

NM_000238.4

p.Y475del1

c.1423_1424delGTA

2 papers

NM_000238.4

p.Y475*

c.1425C>G

2 papers

NM_000238.4

p.Y475*

c.1425C>A

1 paper

NM_000238.4

p.N477Y

c.1429A>T

1 paper

NM_000238.4

p.N477D

c.1429A>G

1 paper

NM_000238.4

p.N477H

c.1429A>C

1 paper

NM_000238.4

p.N477I

c.1430A>T