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.Y475N

c.1423T>A

Surrounding Variants

2 papers

NM_000238.4

p.Y475_V476ins4

c.1423_1427ins12

1 paper

NM_000238.4

p.Y475D

c.1423T>G

1 paper

NM_000238.4

p.Y475H

c.1423T>C

1 paper

NM_000238.4

p.Y475F

c.1424A>T

17 papers

NM_000238.4

p.Y475C

c.1424A>G

1 paper

NM_000238.4

p.Y475S

c.1424A>C

32 papers

NM_000238.4

p.T474I

c.1421C>T

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.V476F

c.1426G>T

2 papers

NM_000238.4

p.V476L

c.1426G>C

10 papers

NM_000238.4

p.V476I

c.1426G>A