Varaico: Literature-Extracted Genetic Variants

KCNQ1

2,217 papers

RefSeq Summary

This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, ...

Pfam Domains

Ion_transaa 122–359UCSCIon transport protein

KCNQ_channelaa 483–620UCSCKCNQ voltage-gated potassium channel

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily Q member 1

HGNC Previous Symbols

LQT; KCNA9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000218.3

p.R237G

c.709A>G

Surrounding Variants

3 papers

NM_000218.3

p.R237W

c.709A>T

3 papers

NM_000218.3

p.R237M

c.710G>T

1 paper

NM_000218.3

p.L236Q

c.707T>A

11 papers

NM_000218.3

p.L236P

c.707T>C

11 papers

NM_000218.3

p.L236R

c.707T>G

1 paper

NM_000218.3

p.M238V

c.712A>G

1 paper

NM_000218.3

p.L236M

c.706C>A

1 paper

NM_000218.3

p.L239_H240delFs

c.715_719del5

20 papers

NM_000218.3

p.I235N

c.704T>A

1 paper

NM_000218.3

p.I235T

c.704T>C

2 papers

NM_000218.3

p.I235V

c.703A>G

2 papers

NM_000218.3

p.L239V

c.715C>G