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

6 papers

NM_000238.4

p.I42S

c.125T>G

Surrounding Variants

5 papers

NM_000238.4

p.I42T

c.125T>C

15 papers

NM_000238.4

p.I42N

c.125T>A

2 papers

NM_000238.4

p.I42M

c.126C>G

2 papers

NM_000238.4

p.I42F

c.124A>T

2 papers

NM_000238.4

p.I42V

c.124A>G

2 papers

NM_000238.4

p.I42L

c.124A>C

10 papers

NM_000238.4

p.Y43D

c.127T>G

2 papers

NM_000238.4

p.Y43H

c.127T>C

2 papers

NM_000238.4

p.Y43N

c.127T>A

3 papers

NM_000238.4

p.V41G

c.122T>G

10 papers

NM_000238.4

p.V41A

c.122T>C

2 papers

NM_000238.4

p.V41D

c.122T>A