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.V100A

c.299T>C

Surrounding Variants

1 paper

NM_000218.3

p.V100E

c.299T>A

1 paper

NM_000218.3

p.V100G

c.299T>G

1 paper

NM_000218.3

p.V100V

c.300G>A

1 paper

NM_000218.3

p.V100V

c.300G>C

1 paper

NM_000218.3

p.V100_L101insC

c.298_302ins3

1 paper

NM_000218.3

p.V100V

c.300G>T

1 paper

NM_000218.3

p.V100fs

c.298_299fs

1 paper

NM_000218.3

p.P99P

c.297G>A

1 paper

NM_000218.3

p.P99P

c.297G>C

1 paper

NM_000218.3

p.V100delFs

c.299_300delTG

1 paper

NM_000218.3

p.L101L

c.301T>C

4 papers

NM_000218.3

p.P99Q

c.296C>A