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.M159_E160Splc

c.478-2A>G

Surrounding Variants

4 papers

NM_000218.3

p.M159_E160Splc

c.478-2A>T

3 papers

NM_000218.3

p.E160del1

c.478_479delGAG

1 paper

NM_000218.3

p.E160_L175del16

c.478_524del48

21 papers

NM_000218.3

p.E160K

c.478G>A

2 papers

NM_000218.3

p.E160Q

c.478G>C

2 papers

NM_000218.3

p.E160fs

c.478_479fs

2 papers

NM_000218.3

p.E160A

c.479A>C

1 paper

NM_000218.3

p.E160G

c.479A>G

3 papers

NM_000218.3

p.E160V

c.479A>T

2 papers

NM_000218.3

p.M159_E160Splc

c.478-8C>T

1 paper

NM_000218.3

p.I161N

c.482T>A

1 paper

NM_000218.3

p.I161M

c.483C>G