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.G154R

c.460G>A

Surrounding Variants

2 papers

NM_000218.3

p.G154E

c.461G>A

1 paper

NM_000218.3

p.T153T

c.459G>A

1 paper

NM_000218.3

p.G154A

c.461G>C

1 paper

NM_000218.3

p.T153T

c.459G>T

16 papers

NM_000218.3

p.T153M

c.458C>T

1 paper

NM_000218.3

p.L156_F157delFs

c.468_469delCT

1 paper

NM_000218.3

p.A152D

c.455C>A

1 paper

NM_000218.3

p.A152G

c.455C>G

1 paper

NM_000218.3

p.A152V

c.455C>T

1 paper

NM_000218.3

p.L156V

c.466C>G

1 paper

NM_000218.3

p.A152T

c.454G>A

1 paper

NM_000218.3

p.A152P

c.454G>C