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.D603fs

c.1807_1808fs

Surrounding Variants

1 paper

NM_000218.3

p.D603delFs

c.1808delA

1 paper

NM_000218.3

p.Q604insFs

c.1810dupC

1 paper

NM_000218.3

p.D603G

c.1808A>G

1 paper

NM_000218.3

p.D603E

c.1809C>A

1 paper

NM_000218.3

p.D603E

c.1809C>G

3 papers

NM_000218.3

p.L602P

c.1805T>C

2 papers

NM_000218.3

p.D603delFs

c.1807delG

2 papers

NM_000218.3

p.L602M

c.1804C>A

1 paper

NM_000218.3

p.Q604E

c.1810C>G

1 paper

NM_000218.3

p.Q604*

c.1810C>T

1 paper

NM_000218.3

p.Q604fs

c.1810_1811fs

1 paper

NM_000218.3

p.Q604L

c.1811A>T