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

2 papers

NM_000218.3

p.M159L

c.475A>C

Surrounding Variants

2 papers

NM_000218.3

p.M159L

c.475A>T

3 papers

NM_000218.3

p.W158C

c.474G>C

3 papers

NM_000218.3

p.W158C

c.474G>T

1 paper

NM_000218.3

p.M159I

c.477G>A

1 paper

NM_000218.3

p.M159I

c.477G>C

1 paper

NM_000218.3

p.M159I

c.477G>T

1 paper

NM_000218.3

p.M159del1

c.475_477delATG

23 papers

NM_000218.3

p.M159_E160Splc

c.477+1G>A

2 papers

NM_000218.3

p.M159_E160Splc

c.477+1G>C

1 paper

NM_000218.3

p.W158fs

c.472_473fs

1 paper

NM_000218.3

p.F157L

c.471C>A

1 paper

NM_000218.3

p.F157L

c.471C>G