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

9 papers

NM_000218.3

p.D202G

c.605A>G

Surrounding Variants

1 paper

NM_000218.3

p.D202A

c.605A>C

1 paper

NM_000218.3

p.D202V

c.605A>T

2 papers

NM_000218.3

p.D202Splc

c.604+1G>A

3 papers

NM_000218.3

p.D202Splc

c.604+1G>C

1 paper

NM_000218.3

p.D202E

c.606C>A

1 paper

NM_000218.3

p.D202E

c.606C>G

25 papers

NM_000218.3

p.D202N

c.604G>A

14 papers

NM_000218.3

p.D202H

c.604G>C

1 paper

NM_000218.3

p.D202Splc

c.604+2T>C

1 paper

NM_000218.3

p.I201V

c.601A>G

1 paper

NM_000218.3

p.D202Splc

c.604+5G>A

1 paper

NM_000218.3

p.D202Splc

c.604+7C>T