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.I609L

c.1825A>C

Surrounding Variants

3 papers

NM_000218.3

p.I609N

c.1826T>A

1 paper

NM_000218.3

p.L608V

c.1822C>G

1 paper

NM_000218.3

p.L608F

c.1822C>T

2 papers

NM_000218.3

p.T610N

c.1829C>A

1 paper

NM_000218.3

p.A607E

c.1820C>A

1 paper

NM_000218.3

p.A607G

c.1820C>G

1 paper

NM_000218.3

p.A607V

c.1820C>T

16 papers

NM_000218.3

p.D611N

c.1831G>A

2 papers

NM_000218.3

p.A607T

c.1819G>A

2 papers

NM_000218.3

p.A607P

c.1819G>C

24 papers

NM_000218.3

p.D611Y

c.1831G>T

2 papers

NM_000218.3

p.A607S

c.1819G>T