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.V164A

c.491T>C

Surrounding Variants

1 paper

NM_000218.3

p.V164V

c.492G>A

5 papers

NM_000218.3

p.V165M

c.493G>A

1 paper

NM_000218.3

p.V165L

c.493G>C

1 paper

NM_000218.3

p.V165L

c.493G>T

1 paper

NM_000218.3

p.V165A

c.494T>C

1 paper

NM_000218.3

p.V165G

c.494T>G

1 paper

NM_000218.3

p.L163M

c.487C>A

2 papers

NM_000218.3

p.L163fs

c.487_488fs

5 papers

NM_000218.3

p.L163delFs

c.488delT

4 papers

NM_000218.3

p.L163fs

c.487_488fs

1 paper

NM_000218.3

p.L163_V165del0

c.488_493del6

1 paper

NM_000218.3

p.V165V

c.495G>C