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

5 papers

NM_000238.4

p.A547T

c.1639G>A

Surrounding Variants

5 papers

NM_000238.4

p.A547V

c.1640C>T

2 papers

NM_000238.4

p.G546V

c.1637G>T

3 papers

NM_000238.4

p.G546A

c.1637G>C

1 paper

NM_000238.4

p.G546D

c.1637G>A

1 paper

NM_000238.4

p.Y545_G546delFs

c.1635_1636delCG

10 papers

NM_000238.4

p.G546C

c.1636G>T

2 papers

NM_000238.4

p.G546R

c.1636G>C

3 papers

NM_000238.4

p.G546S

c.1636G>A

2 papers

NM_000238.4

p.A548V

c.1643C>T

1 paper

NM_000238.4

p.Y545Y

c.1635C>T

1 paper

NM_000238.4

p.Y545*

c.1635C>G

1 paper

NM_000238.4

p.Y545*

c.1635C>A