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.Q234R

c.701A>G

Surrounding Variants

12 papers

NM_000218.3

p.Q234P

c.701A>C

1 paper

NM_000218.3

p.Q234L

c.701A>T

2 papers

NM_000218.3

p.Q234K

c.700C>A

2 papers

NM_000218.3

p.Q234E

c.700C>G

2 papers

NM_000218.3

p.Q234*

c.700C>T

1 paper

NM_000218.3

p.I235_D242del8

c.703_725del24

2 papers

NM_000218.3

p.I235V

c.703A>G

20 papers

NM_000218.3

p.I235N

c.704T>A

1 paper

NM_000218.3

p.L233P

c.698T>C

1 paper

NM_000218.3

p.I235T

c.704T>C

1 paper

NM_000218.3

p.F232L

c.696C>A

1 paper

NM_000218.3

p.L236M

c.706C>A