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

3 papers

NM_000218.3

p.P99L

c.296C>T

Surrounding Variants

4 papers

NM_000218.3

p.P99Q

c.296C>A

6 papers

NM_000218.3

p.P99R

c.296C>G

1 paper

NM_000218.3

p.V100delFs

c.298delG

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.V100_L101insC

c.298_302ins3

1 paper

NM_000218.3

p.V100fs

c.298_299fs

3 papers

NM_000218.3

p.R98H

c.293G>A

2 papers

NM_000218.3

p.R98P

c.293G>C

1 paper

NM_000218.3

p.R98L

c.293G>T

1 paper

NM_000218.3

p.V100E

c.299T>A