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

11 papers

NM_000218.3

p.W305L

c.914G>T

Surrounding Variants

17 papers

NM_000218.3

p.W305*

c.914G>A

38 papers

NM_000218.3

p.W305S

c.914G>C

16 papers

NM_000218.3

p.W305*

c.915G>A

3 papers

NM_000218.3

p.W305C

c.915G>C

3 papers

NM_000218.3

p.W305C

c.915G>T

5 papers

NM_000218.3

p.W305R

c.913T>A

5 papers

NM_000218.3

p.W305R

c.913T>C

4 papers

NM_000218.3

p.V307delFs

c.919delG

1 paper

NM_000218.3

p.G306_V307delFs

c.918_919delGG

35 papers

NM_000218.3

p.G306R

c.916G>A

2 papers

NM_000218.3

p.W304*

c.912G>A

34 papers

NM_000218.3

p.G306R

c.916G>C