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.Q530P

c.1589A>C

Surrounding Variants

1 paper

NM_000218.3

p.Q530fs

c.1588_1589fs

67 papers

NM_000218.3

p.Q530*

c.1588C>T

1 paper

NM_000218.3

p.F529L

c.1587C>A

1 paper

NM_000218.3

p.F529L

c.1587C>G

4 papers

NM_000218.3

p.Q530_Q531Splc

c.1590+1G>A

1 paper

NM_000218.3

p.Q530_Q531Splc

c.1590+1G>T

1 paper

NM_000218.3

p.F529L

c.1585T>C

1 paper

NM_000218.3

p.K528R

c.1583A>G

1 paper

NM_000218.3

p.K528fs

c.1582_1583fs

1 paper

NM_000218.3

p.K528E

c.1582A>G

1 paper

NM_000218.3

p.K527N

c.1581G>C

1 paper

NM_000218.3

p.K527N

c.1581G>T