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

4 papers

NM_000218.3

p.R190P

c.569G>C

Surrounding Variants

127 papers

NM_000218.3

p.R190Q

c.569G>A

17 papers

NM_000218.3

p.R190L

c.569G>T

21 papers

NM_000218.3

p.L191_F193delFs

c.573_577del5

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

19 papers

NM_000218.3

p.L191fs

c.571_572fs

2 papers

NM_000218.3

p.L191V

c.571C>G

1 paper

NM_000218.3

p.L191_R192delFs

c.572_575del4

12 papers

NM_000218.3

p.G189E

c.566G>A

9 papers

NM_000218.3

p.G189A

c.566G>C