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

6 papers

NM_000218.3

p.S66F

c.197C>T

Surrounding Variants

2 papers

NM_000218.3

p.S66Y

c.197C>A

1 paper

NM_000218.3

p.S66C

c.197C>G

1 paper

NM_000218.3

p.S66S

c.198C>A

1 paper

NM_000218.3

p.S66S

c.198C>G

1 paper

NM_000218.3

p.S66S

c.198C>T

1 paper

NM_000218.3

p.S66P

c.196T>C

1 paper

NM_000218.3

p.P67delFs

c.200delC

1 paper

NM_000218.3

p.P67_P70delFs

c.200_210del11

1 paper

NM_000218.3

p.P67T

c.199C>A

1 paper

NM_000218.3

p.P67A

c.199C>G

3 papers

NM_000218.3

p.P67S

c.199C>T

2 papers

NM_000218.3

p.P67fs

c.199_200fs