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.M574R

c.1721T>G

Surrounding Variants

15 papers

NM_000238.4

p.M574V

c.1720A>G

2 papers

NM_000238.4

p.E575*

c.1723G>T

2 papers

NM_000238.4

p.E575Q

c.1723G>C

3 papers

NM_000238.4

p.E575K

c.1723G>A

2 papers

NM_000238.4

p.N573K

c.1719C>A

1 paper

NM_000238.4

p.E575V

c.1724A>T

8 papers

NM_000238.4

p.E575G

c.1724A>G

5 papers

NM_000238.4

p.E575A

c.1724A>C

1 paper

NM_000238.4

p.N573Y

c.1717A>T

1 paper

NM_000238.4

p.I567_E575del9

c.1699_1724del27

6 papers

NM_000238.4

p.G572V

c.1715G>T

2 papers

NM_000238.4

p.G572A

c.1715G>C