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

2 papers

NM_000238.4

p.P205L

c.614C>T

Surrounding Variants

3 papers

NM_000238.4

p.P205S

c.613C>T

2 papers

NM_000238.4

p.P205T

c.613C>A

2 papers

NM_000238.4

p.S206I

c.617G>T

1 paper

NM_000238.4

p.S206R

c.618C>A

2 papers

NM_000238.4

p.S206delins

c.617_618delinsTT

3 papers

NM_000238.4

p.S207fs

c.619_620fs

1 paper

NM_000238.4

p.S207delFs

c.619delT

1 paper

NM_000238.4

p.A203V

c.608C>T

4 papers

NM_000238.4

p.A203T

c.607G>A

3 papers

NM_000238.4

p.E208K

c.622G>A

1 paper

NM_000238.4

p.P202P

c.606C>G

3 papers

NM_000238.4

p.P202L

c.605C>T