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.A268V

c.803C>T

Surrounding Variants

2 papers

NM_000238.4

p.A268G

c.803C>G

2 papers

NM_000238.4

p.A268D

c.803C>A

1 paper

NM_000238.4

p.A268A

c.804C>T

6 papers

NM_000238.4

p.R269W

c.805C>T

1 paper

NM_000238.4

p.R269G

c.805C>G

1 paper

NM_000238.4

p.R269Q

c.806G>A

1 paper

NM_000238.4

p.L267V

c.799C>G

2 papers

NM_000238.4

p.S266I

c.797G>T

1 paper

NM_000238.4

p.N257_C265del9

c.769_794del27

1 paper

NM_000238.4

p.T270M

c.809C>T

1 paper

NM_000238.4

p.R271C

c.811C>T

2 papers

NM_000238.4

p.R271H

c.812G>A