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.F157fs

c.469_470fs

Surrounding Variants

1 paper

NM_000218.3

p.F157L

c.469T>C

3 papers

NM_000218.3

p.F157Y

c.470T>A

1 paper

NM_000218.3

p.F157S

c.470T>C

7 papers

NM_000218.3

p.F157C

c.470T>G

1 paper

NM_000218.3

p.F157L

c.471C>A

1 paper

NM_000218.3

p.F157L

c.471C>G

1 paper

NM_000218.3

p.W158delFs

c.472_473delTG

2 papers

NM_000218.3

p.L156P

c.467T>C

1 paper

NM_000218.3

p.L156R

c.467T>G

1 paper

NM_000218.3

p.L156V

c.466C>G

1 paper

NM_000218.3

p.W158fs

c.472_473fs

1 paper

NM_000218.3

p.M159del1

c.475_477delATG