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.K13R

c.38A>G

Surrounding Variants

2 papers

NM_000218.3

p.K13*

c.37A>T

2 papers

NM_000218.3

p.K13K

c.39G>A

1 paper

NM_000218.3

p.K13N

c.39G>C

1 paper

NM_000218.3

p.K13N

c.39G>T

1 paper

NM_000218.3

p.R14S

c.40C>A

20 papers

NM_000218.3

p.R14C

c.40C>T

1 paper

NM_000218.3

p.R14H

c.41G>A

5 papers

NM_000218.3

p.R14L

c.41G>T

1 paper

NM_000218.3

p.R12insFs

c.35_36insG

6 papers

NM_000218.3

p.R12delFs

c.35delG

2 papers

NM_000218.3

p.W15R

c.43T>C

1 paper

NM_000218.3

p.E11G

c.32A>G