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

8 papers

NM_000218.3

p.W304R

c.910T>C

Surrounding Variants

8 papers

NM_000218.3

p.W304R

c.910T>A

1 paper

NM_000218.3

p.W304G

c.910T>G

2 papers

NM_000218.3

p.W304*

c.911G>A

1 paper

NM_000218.3

p.W304S

c.911G>C

3 papers

NM_000218.3

p.W304L

c.911G>T

2 papers

NM_000218.3

p.W304*

c.912G>A

6 papers

NM_000218.3

p.L303P

c.908T>C

1 paper

NM_000218.3

p.L303insFs

c.909dupG

1 paper

NM_181798.2

p.L176L

c.526C>T

5 papers

NM_000218.3

p.W305R

c.913T>A

5 papers

NM_000218.3

p.W305R

c.913T>C

4 papers

NM_000218.3

p.V307delFs

c.919delG