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.C136S

c.407G>C

Surrounding Variants

9 papers

NM_000218.3

p.C136F

c.407G>T

1 paper

NM_000218.3

p.C136S

c.406T>A

5 papers

NM_000218.3

p.L137F

c.409C>T

5 papers

NM_000218.3

p.V135A

c.404T>C

2 papers

NM_000218.3

p.L137P

c.410T>C

5 papers

NM_000218.3

p.V135I

c.403G>A

2 papers

NM_000218.3

p.I138V

c.412A>G

1 paper

NM_000218.3

p.I138F

c.412A>T

11 papers

NM_000218.3

p.L134P

c.401T>C

1 paper

NM_000218.3

p.V135delFs

c.403delG

1 paper

NM_000218.3

p.L134M

c.400C>A

1 paper

NM_000218.3

p.L134fs

c.400_401fs