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.P67_P70delFs

c.200_210del11

Surrounding Variants

1 paper

NM_000218.3

p.S66P

c.196T>C

1 paper

NM_000218.3

p.P67delFs

c.200delC

2 papers

NM_000218.3

p.S66Y

c.197C>A

1 paper

NM_000218.3

p.S66C

c.197C>G

6 papers

NM_000218.3

p.S66F

c.197C>T

1 paper

NM_000218.3

p.A65E

c.194C>A

1 paper

NM_000218.3

p.S66S

c.198C>A

1 paper

NM_000218.3

p.A65G

c.194C>G

1 paper

NM_000218.3

p.S66S

c.198C>G

3 papers

NM_000218.3

p.A65V

c.194C>T

1 paper

NM_000218.3

p.S66S

c.198C>T

1 paper

NM_000218.3

p.P67T

c.199C>A