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

17 papers

NM_000238.4

p.F557L

c.1671T>G

Surrounding Variants

17 papers

NM_000238.4

p.F557L

c.1671T>A

32 papers

NM_000238.4

p.A558P

c.1672G>C

2 papers

NM_000238.4

p.A558T

c.1672G>A

2 papers

NM_000238.4

p.F557delFs

c.1671delA

17 papers

NM_000238.4

p.F557L

c.1669T>C

2 papers

NM_000238.4

p.F557fs

c.1669_1670fs

3 papers

NM_000238.4

p.A558V

c.1673C>T

7 papers

NM_000238.4

p.A558E

c.1673C>A

1 paper

NM_000238.4

p.T556fs

c.1666_1667fs

1 paper

NM_000238.4

p.T556T

c.1668C>A

5 papers

NM_000238.4

p.L559F

c.1675C>T

1 paper

NM_000238.4

p.T556I

c.1667C>T