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.F36F

c.108C>T

Surrounding Variants

1 paper

NM_000218.3

p.F36L

c.108C>A

1 paper

NM_000218.3

p.F36L

c.108C>G

1 paper

NM_000218.3

p.S37T

c.109T>A

1 paper

NM_000218.3

p.S37P

c.109T>C

3 papers

NM_000218.3

p.S37A

c.109T>G

1 paper

NM_000218.3

p.S37*

c.110C>A

1 paper

NM_000218.3

p.S37W

c.110C>G

1 paper

NM_000218.3

p.S37L

c.110C>T

1 paper

NM_000218.3

p.P35P

c.105C>A

1 paper

NM_000218.3

p.P35P

c.105C>G

1 paper

NM_000218.3

p.P35P

c.105C>T

1 paper

NM_000218.3

p.F36delFs

c.107delT