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.Y299C

c.896A>G

Surrounding Variants

2 papers

NM_000218.3

p.S298R

c.894C>A

2 papers

NM_000218.3

p.S298R

c.894C>G

1 paper

NM_000218.3

p.Y299_A300del2

c.895_899del6

43 papers

NM_000218.3

p.A300T

c.898G>A

1 paper

NM_000218.3

p.A300P

c.898G>C

4 papers

NM_000218.3

p.A300S

c.898G>T

3 papers

NM_000218.3

p.A300E

c.899C>A

3 papers

NM_000218.3

p.A300G

c.899C>G

1 paper

NM_000218.3

p.A300V

c.899C>T

1 paper

NM_000218.3

p.S298I

c.893G>T

2 papers

NM_000218.3

p.S298R

c.892A>C

1 paper

NM_000218.3

p.A300A

c.900A>C