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

3 papers

NM_000218.3

p.A62A

c.186G>A

Surrounding Variants

6 papers

NM_000218.3

p.A62A

c.186G>C

1 paper

NM_000218.3

p.A62A

c.186G>T

2 papers

NM_000218.3

p.P64delFs

c.191delC

2 papers

NM_000218.3

p.P63T

c.187C>A

1 paper

NM_000218.3

p.A62E

c.185C>A

1 paper

NM_000218.3

p.A62G

c.185C>G

1 paper

NM_000218.3

p.P63A

c.187C>G

4 papers

NM_000218.3

p.P63S

c.187C>T

2 papers

NM_000218.3

p.A62V

c.185C>T

5 papers

NM_000218.3

p.A62T

c.184G>A

2 papers

NM_000218.3

p.A62P

c.184G>C

1 paper

NM_000218.3

p.A62S

c.184G>T