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.V310_T311insFs

c.930_931insC

Surrounding Variants

4 papers

NM_000218.3

p.V310A

c.929T>C

2 papers

NM_000218.3

p.V310G

c.929T>G

1 paper

NM_000218.3

p.V310delFs

c.930delC

2 papers

NM_000218.3

p.T312del1

c.934_935delACC

20 papers

NM_000218.3

p.V310I

c.928G>A

6 papers

NM_000218.3

p.V310L

c.928G>C

8 papers

NM_000218.3

p.T311A

c.931A>G

1 paper

NM_000218.3

p.T311S

c.931A>T

7 papers

NM_000218.3

p.T309R

c.926C>G

1 paper

NM_000218.3

p.T311S

c.932C>G

24 papers

NM_000218.3

p.T311I

c.932C>T

12 papers

NM_000218.3

p.T309I

c.926C>T