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

1 paper

NM_000238.4

p.Q61P

c.182A>C

Surrounding Variants

7 papers

NM_000238.4

p.Q61R

c.182A>G

1 paper

NM_000238.4

p.Q61H

c.183G>T

1 paper

NM_000238.4

p.Q61H

c.183G>C

1 paper

NM_000238.4

p.Q61delins

c.182_183delinsCT

1 paper

NM_000238.4

p.M60I

c.180G>T

2 papers

NM_000238.4

p.M60I

c.180G>C

1 paper

NM_000238.4

p.M60I

c.180G>A

2 papers

NM_000238.4

p.M60T

c.179T>C

6 papers

NM_000238.4

p.R62Q

c.185G>A

3 papers

NM_000238.4

p.M60L

c.178A>T

1 paper

NM_000238.4

p.M60V

c.178A>G

3 papers

NM_000238.4

p.V59G

c.176T>G