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.R92H

c.275G>A

Surrounding Variants

3 papers

NM_000238.4

p.R92L

c.275G>T

2 papers

NM_000238.4

p.R92P

c.275G>C

4 papers

NM_000238.4

p.R92C

c.274C>T

4 papers

NM_000238.4

p.E91D

c.273G>T

4 papers

NM_000238.4

p.E91D

c.273G>C

1 paper

NM_000238.4

p.E91E

c.273G>A

1 paper

NM_000238.4

p.K93*

c.277A>T

3 papers

NM_000238.4

p.K93E

c.277A>G

1 paper

NM_000238.4

p.K93Q

c.277A>C

2 papers

NM_000238.4

p.E91V

c.272A>T

5 papers

NM_000238.4

p.K93R

c.278A>G

1 paper

NM_000238.4

p.E91*

c.271G>T