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.G189insFs

c.566_567insC

Surrounding Variants

12 papers

NM_000218.3

p.G189E

c.566G>A

9 papers

NM_000218.3

p.G189A

c.566G>C

1 paper

NM_000218.3

p.G189V

c.566G>T

36 papers

NM_000218.3

p.G189R

c.565G>A

35 papers

NM_000218.3

p.G189R

c.565G>C

2 papers

NM_000218.3

p.G189fs

c.565_566fs

2 papers

NM_000218.3

p.R190insFs

c.569_570insG

2 papers

NM_000218.3

p.R190G

c.568C>G

40 papers

NM_000218.3

p.R190W

c.568C>T

3 papers

NM_000218.3

p.R190fs

c.568_569fs

11 papers

NM_000218.3

p.W188*

c.564G>A

1 paper

NM_000218.3

p.W188C

c.564G>C