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.K183*

c.547A>T

Surrounding Variants

1 paper

NM_000218.3

p.K183Q

c.547A>C

1 paper

NM_000218.3

p.K183E

c.547A>G

5 papers

NM_000218.3

p.K183R

c.548A>G

4 papers

NM_000218.3

p.K183M

c.548A>T

4 papers

NM_000218.3

p.S182R

c.546C>A

4 papers

NM_000218.3

p.S182R

c.546C>G

1 paper

NM_000218.3

p.K183N

c.549G>C

1 paper

NM_000218.3

p.K183N

c.549G>T

4 papers

NM_000218.3

p.S182R

c.544A>C

1 paper

NM_000218.3

p.S182fs

c.544_545fs

4 papers

NM_000218.3

p.Y184H

c.550T>C

3 papers

NM_000218.3

p.Y184D

c.550T>G