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

9 papers

NM_000238.4

p.R537W

c.1609C>T

Surrounding Variants

5 papers

NM_000238.4

p.R537Q

c.1610G>A

2 papers

NM_000238.4

p.R537fs

c.1609_1610fs

1 paper

NM_000238.4

p.A536delFs

c.1607_1608delCG

2 papers

NM_000238.4

p.A536V

c.1607C>T

1 paper

NM_000238.4

p.A536S

c.1606G>T

2 papers

NM_000238.4

p.K538E

c.1612A>G

3 papers

NM_000238.4

p.K538Q

c.1612A>C

1 paper

NM_000238.4

p.V535V

c.1605G>A

2 papers

NM_000238.4

p.K538R

c.1613A>G

1 paper

NM_000238.4

p.V535G

c.1604T>G

5 papers

NM_000238.4

p.V535A

c.1604T>C

1 paper

NM_000238.4

p.V535E

c.1604T>A