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.A72S

c.214G>T

Surrounding Variants

1 paper

NM_000218.3

p.A72T

c.214G>A

2 papers

NM_000218.3

p.A72P

c.214G>C

1 paper

NM_000218.3

p.A72E

c.215C>A

1 paper

NM_000218.3

p.A72A

c.216G>C

1 paper

NM_000218.3

p.A72A

c.216G>T

21 papers

NM_000218.3

p.P73T

c.217C>A

1 paper

NM_000218.3

p.P73A

c.217C>G

2 papers

NM_000218.3

p.P73S

c.217C>T

2 papers

NM_000218.3

p.A71T

c.211G>A

1 paper

NM_000218.3

p.A71P

c.211G>C

1 paper

NM_000218.3

p.P70P

c.210C>G

1 paper

NM_000218.3

p.P73L

c.218C>T