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.G60S

c.178G>A

Surrounding Variants

5 papers

NM_000218.3

p.G60R

c.178G>C

3 papers

NM_000218.3

p.G60C

c.178G>T

7 papers

NM_000218.3

p.G60D

c.179G>A

2 papers

NM_000218.3

p.G60A

c.179G>C

1 paper

NM_000218.3

p.G60V

c.179G>T

1 paper

NM_000218.3

p.P61delFs

c.181delC

4 papers

NM_000218.3

p.P61T

c.181C>A

1 paper

NM_000218.3

p.P59T

c.175C>A

2 papers

NM_000218.3

p.P59A

c.175C>G

1 paper

NM_000218.3

p.P59S

c.175C>T

1 paper

NM_000218.3

p.P61S

c.181C>T

1 paper

NM_000218.3

p.P64_P70del0

c.190_210del21