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

2 papers

NM_000218.3

p.A52S

c.154G>T

Surrounding Variants

4 papers

NM_000218.3

p.A52T

c.154G>A

3 papers

NM_000218.3

p.A52P

c.154G>C

6 papers

NM_000218.3

p.Y51*

c.153C>A

1 paper

NM_000218.3

p.A52E

c.155C>A

6 papers

NM_000218.3

p.Y51*

c.153C>G

1 paper

NM_000218.3

p.A52G

c.155C>G

2 papers

NM_000218.3

p.A52V

c.155C>T

1 paper

NM_000218.3

p.A52delFs

c.154delG

1 paper

NM_000218.3

p.I54_P59delFs

c.160_175del16

7 papers

NM_000218.3

p.I54_P56ins1

c.160_168dup9

1 paper

NM_000218.3

p.Y51insFs

c.152_153insT

1 paper

NM_000218.3

p.Y51S

c.152A>C