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.A102A

c.306G>T

Surrounding Variants

1 paper

NM_000218.3

p.A102A

c.306G>A

2 papers

NM_000218.3

p.A102E

c.305C>A

1 paper

NM_000218.3

p.A102G

c.305C>G

2 papers

NM_000218.3

p.R103C

c.307C>T

1 paper

NM_000218.3

p.A102V

c.305C>T

1 paper

NM_000218.3

p.A102T

c.304G>A

1 paper

NM_000218.3

p.A102P

c.304G>C

5 papers

NM_000218.3

p.A102S

c.304G>T

1 paper

NM_000218.3

p.R103R

c.309C>A

1 paper

NM_000218.3

p.L101F

c.303G>C

1 paper

NM_000218.3

p.L101F

c.303G>T

1 paper

NM_000218.3

p.T104ins1

c.310_311insATG