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.A370P

c.1108G>C

Surrounding Variants

1 paper

NM_000218.3

p.A370T

c.1108G>A

1 paper

NM_000218.3

p.A370S

c.1108G>T

3 papers

NM_000218.3

p.A370E

c.1109C>A

2 papers

NM_000218.3

p.A370G

c.1109C>G

8 papers

NM_000218.3

p.A370V

c.1109C>T

1 paper

NM_000218.3

p.P369Q

c.1106C>A

1 paper

NM_000218.3

p.P369R

c.1106C>G

6 papers

NM_000218.3

p.P369L

c.1106C>T

7 papers

NM_000218.3

p.A370A

c.1110G>A

2 papers

NM_000218.3

p.P369T

c.1105C>A

1 paper

NM_000218.3

p.P369A

c.1105C>G

3 papers

NM_000218.3

p.P369S

c.1105C>T