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

5 papers

NM_000218.3

p.Y267F

c.800A>T

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

3 papers

NM_000218.3

p.L266L

c.798G>T

1 paper

NM_000218.3

p.L266Q

c.797T>A

43 papers

NM_000218.3

p.L266P

c.797T>C

4 papers

NM_000218.3

p.L266R

c.797T>G

2 papers

NM_000218.3

p.I268S

c.803T>G

2 papers

NM_000218.3

p.L266M

c.796C>A

2 papers

NM_000218.3

p.I268I

c.804C>T

2 papers

NM_000218.3

p.L266fs

c.796_797fs

78 papers

NM_000218.3

p.G269S

c.805G>A