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

2 papers

NM_000218.3

p.I268S

c.803T>G

Surrounding Variants

2 papers

NM_000218.3

p.I268V

c.802A>G

1 paper

NM_000218.3

p.I268delFs

c.803delT

1 paper

NM_000218.3

p.G269_L273del5

c.805_818del15

2 papers

NM_000218.3

p.I268I

c.804C>T

78 papers

NM_000218.3

p.G269S

c.805G>A

3 papers

NM_000218.3

p.G269R

c.805G>C

1 paper

NM_000218.3

p.G269C

c.805G>T

1 paper

NM_000218.3

p.G269_F270del1

c.806_808delGCT

5 papers

NM_000218.3

p.Y267F

c.800A>T

40 papers

NM_000218.3

p.G269D

c.806G>A

2 papers

NM_000218.3

p.G269A

c.806G>C

3 papers

NM_000218.3

p.G269V

c.806G>T