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.I639F

c.1915A>T

Surrounding Variants

2 papers

NM_000238.4

p.I639T

c.1916T>C

2 papers

NM_000238.4

p.I639N

c.1916T>A

15 papers

NM_000238.4

p.K638del1

c.1912_1913delCTT

4 papers

NM_000238.4

p.K638N

c.1914G>T

4 papers

NM_000238.4

p.K638N

c.1914G>C

2 papers

NM_000238.4

p.K638R

c.1913A>G

16 papers

NM_000238.4

p.F640V

c.1918T>G

8 papers

NM_000238.4

p.F640L

c.1918T>C

12 papers

NM_000238.4

p.K638E

c.1912A>G

2 papers

NM_000238.4

p.K638Q

c.1912A>C

8 papers

NM_000238.4

p.E637D

c.1911G>T

8 papers

NM_000238.4

p.E637D

c.1911G>C