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

4 papers

NM_000218.3

p.A287V

c.860C>T

Surrounding Variants

10 papers

NM_000218.3

p.A287E

c.860C>A

1 paper

NM_000218.3

p.A287G

c.860C>G

12 papers

NM_000218.3

p.A287T

c.859G>A

2 papers

NM_000218.3

p.A287P

c.859G>C

1 paper

NM_000218.3

p.A287fs

c.859_860fs

5 papers

NM_000218.3

p.A287S

c.859G>T

2 papers

NM_000218.3

p.D286E

c.858C>A

2 papers

NM_000218.3

p.D286E

c.858C>G

3 papers

NM_000218.3

p.D286D

c.858C>T

2 papers

NM_000218.3

p.V288M

c.862G>A

1 paper

NM_000218.3

p.V288fs

c.862_863fs

1 paper

NM_000218.3

p.V288fs

c.862_863fs