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.D301V

c.902A>T

Surrounding Variants

1 paper

NM_000218.3

p.D301A

c.902A>C

1 paper

NM_000218.3

p.D301G

c.902A>G

2 papers

NM_000218.3

p.D301Y

c.901G>T

1 paper

NM_000218.3

p.D301E

c.903T>A

1 paper

NM_000218.3

p.D301E

c.903T>G

1 paper

NM_000218.3

p.A300A

c.900A>C

6 papers

NM_000218.3

p.A302T

c.904G>A

1 paper

NM_000218.3

p.A302P

c.904G>C

1 paper

NM_000218.3

p.A302S

c.904G>T

5 papers

NM_000218.3

p.A302E

c.905C>A

3 papers

NM_000218.3

p.A300E

c.899C>A

3 papers

NM_000218.3

p.A300G

c.899C>G