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

2 papers

NM_000218.3

p.R561S

c.1683G>C

Surrounding Variants

1 paper

NM_000218.3

p.R561_R562ins1

c.1683_1684insAGC

2 papers

NM_000218.3

p.R561S

c.1683G>T

2 papers

NM_000218.3

p.R562G

c.1684A>G

1 paper

NM_000218.3

p.R562W

c.1684A>T

1 paper

NM_000218.3

p.R562fs

c.1684_1685fs

1 paper

NM_000218.3

p.R561K

c.1682G>A

5 papers

NM_000218.3

p.R561G

c.1681A>G

1 paper

NM_000218.3

p.R561delFs

c.1683delG

1 paper

NM_000218.3

p.R562K

c.1685G>A

1 paper

NM_000218.3

p.R562T

c.1685G>C

8 papers

NM_000218.3

p.R562M

c.1685G>T

1 paper

NM_000218.3

p.R562Splc

c.1685+1G>A