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

16 papers

NM_000218.3

p.G306V

c.917G>T

Surrounding Variants

2 papers

NM_000218.3

p.G306E

c.917G>A

1 paper

NM_000218.3

p.G306A

c.917G>C

1 paper

NM_000218.3

p.V307del1

c.919_920delGTG

35 papers

NM_000218.3

p.G306R

c.916G>A

34 papers

NM_000218.3

p.G306R

c.916G>C

2 papers

NM_000218.3

p.G306W

c.916G>T

16 papers

NM_000218.3

p.W305*

c.915G>A

3 papers

NM_000218.3

p.V307M

c.919G>A

67 papers

NM_000218.3

p.V307L

c.919G>C

3 papers

NM_000218.3

p.W305C

c.915G>C

1 paper

NM_000218.3

p.V307fs

c.919_920fs

62 papers

NM_000218.3

p.V307L

c.919G>T