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.L499F

c.1495C>T

Surrounding Variants

1 paper

NM_000238.4

p.L499V

c.1495C>G

1 paper

NM_000238.4

p.L499I

c.1495C>A

3 papers

NM_000238.4

p.L499R

c.1496T>G

9 papers

NM_000238.4

p.L499P

c.1496T>C

1 paper

NM_000238.4

p.L499H

c.1496T>A

1 paper

NM_000238.4

p.F498L

c.1494C>G

1 paper

NM_000238.4

p.F498L

c.1494C>A

1 paper

NM_000238.4

p.F498C

c.1493T>G

1 paper

NM_000238.4

p.F498S

c.1493T>C

1 paper

NM_000238.4

p.F498Y

c.1493T>A

2 papers

NM_000238.4

p.F498V

c.1492T>G

3 papers

NM_000238.4

p.F498L

c.1492T>C