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.V465L

c.1393G>C

Surrounding Variants

1 paper

NM_000218.3

p.V465I

c.1393G>A

1 paper

NM_000218.3

p.V465L

c.1393G>T

1 paper

NM_000218.3

p.S464T

c.1390T>A

1 paper

NM_000218.3

p.S463R

c.1389T>A

1 paper

NM_000218.3

p.S463R

c.1389T>G

5 papers

NM_000218.3

p.S463T

c.1388G>C

1 paper

NM_000218.3

p.S463_S464insFs

c.1389_1390insT

1 paper

NM_000218.3

p.S463R

c.1387A>C

1 paper

NM_000218.3

p.S463G

c.1387A>G

1 paper

NM_000218.3

p.D462A

c.1385A>C

1 paper

NM_000218.3

p.V465Splc

c.1393+9C>A

1 paper

NM_000218.3

p.V465Splc

c.1393+9C>T