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.W17R

c.49T>C

Surrounding Variants

1 paper

NM_000218.3

p.W17R

c.49T>A

2 papers

NM_000218.3

p.W17G

c.49T>G

6 papers

NM_000218.3

p.W17*

c.50G>A

1 paper

NM_000218.3

p.W17S

c.50G>C

1 paper

NM_000218.3

p.W17L

c.50G>T

7 papers

NM_000218.3

p.W17*

c.51G>A

1 paper

NM_000218.3

p.G16A

c.47G>C

1 paper

NM_000218.3

p.W17C

c.51G>C

1 paper

NM_000218.3

p.W17C

c.51G>T

1 paper

NM_000218.3

p.G18S

c.52G>A

2 papers

NM_000218.3

p.G18R

c.52G>C

1 paper

NM_000218.3

p.G16R

c.46G>C