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.P660L

c.1979C>T

Surrounding Variants

1 paper

NM_000218.3

p.P660H

c.1979C>A

1 paper

NM_000218.3

p.P660A

c.1978C>G

1 paper

NM_000218.3

p.P660S

c.1978C>T

2 papers

NM_000218.3

p.T658N

c.1973C>A

11 papers

NM_000218.3

p.Y662*

c.1986C>A

11 papers

NM_000218.3

p.Y662*

c.1986C>G

19 papers

NM_000218.3

p.Y662Y

c.1986C>T

3 papers

NM_000218.3

p.E663K

c.1987G>A

1 paper

NM_000218.3

p.E663_Q664insGT

c.1987_1991ins6

1 paper

NM_000218.3

p.N657S

c.1970A>G

1 paper

NM_000218.3

p.Q664*

c.1990C>T

1 paper

NM_000218.3

p.L665V

c.1993C>G