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

3 papers

NM_000238.4

p.S600R

c.1798A>C

Surrounding Variants

3 papers

NM_000238.4

p.S600C

c.1798A>T

4 papers

NM_000238.4

p.S599R

c.1797C>G

4 papers

NM_000238.4

p.S599R

c.1797C>A

2 papers

NM_000238.4

p.S599T

c.1796G>C

2 papers

NM_000238.4

p.S599N

c.1796G>A

3 papers

NM_000238.4

p.S600R

c.1800C>G

3 papers

NM_000238.4

p.S600R

c.1800C>A

6 papers

NM_000238.4

p.G601C

c.1801G>T

143 papers

NM_000238.4

p.G601S

c.1801G>A

2 papers

NM_000238.4

p.S599C

c.1795A>T

4 papers

NM_000238.4

p.S599R

c.1795A>C

1 paper

NM_000238.4

p.P596_N598delFs

c.1787_1794del8