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.L520P

c.1559T>C

Surrounding Variants

1 paper

NM_000238.4

p.L520R

c.1559T>G

2 papers

NM_000238.4

p.L520Q

c.1559T>A

2 papers

NM_000238.4

p.L520V

c.1558C>G

1 paper

NM_000238.4

p.L520M

c.1558C>A

2 papers

NM_000238.4

p.E519_L520Splc

c.1558-1G>C

1 paper

NM_000238.4

p.E519_L520Splc

c.1558-1G>A

1 paper

NM_000238.4

p.I521F

c.1561A>T

2 papers

NM_000238.4

p.I521V

c.1561A>G

1 paper

NM_000238.4

p.I521L

c.1561A>C

1 paper

NM_000238.4

p.I521S

c.1562T>G

1 paper

NM_000238.4

p.I521T

c.1562T>C

2 papers

NM_000238.4

p.I521N

c.1562T>A