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.L552S

c.1655T>C

Surrounding Variants

1 paper

NM_000238.4

p.L553F

c.1657C>T

5 papers

NM_000238.4

p.L553V

c.1657C>G

4 papers

NM_000238.4

p.F551L

c.1653C>G

4 papers

NM_000238.4

p.F551L

c.1653C>A

1 paper

NM_000238.4

p.L553R

c.1658T>G

3 papers

NM_000238.4

p.F551S

c.1652T>C

1 paper

NM_000238.4

p.F551Y

c.1652T>A

4 papers

NM_000238.4

p.F551L

c.1651T>C

1 paper

NM_000238.4

p.M554R

c.1661T>G

4 papers

NM_000238.4

p.M554T

c.1661T>C

2 papers

NM_000238.4

p.M554K

c.1661T>A

1 paper

NM_000238.4

p.M554fs

c.1660_1661fs