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

59 papers

NM_000238.4

p.S631C

c.1892C>G

Surrounding Variants

3 papers

NM_000238.4

p.S631F

c.1892C>T

4 papers

NM_000238.4

p.S631Y

c.1892C>A

120 papers

NM_000238.4

p.S631A

c.1891T>G

2 papers

NM_000238.4

p.S631P

c.1891T>C

10 papers

NM_000238.4

p.P632S

c.1894C>T

4 papers

NM_000238.4

p.P632A

c.1894C>G

3 papers

NM_000238.4

p.V630G

c.1889T>G

15 papers

NM_000238.4

p.V630A

c.1889T>C

4 papers

NM_000238.4

p.P632L

c.1895C>T

29 papers

NM_000238.4

p.V630L

c.1888G>C

11 papers

NM_000238.4

p.V630I

c.1888G>A

1 paper

NM_000238.4

p.N629delFs

c.1887delG