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

11 papers

NM_000218.3

p.G119R

c.355G>C

Surrounding Variants

2 papers

NM_000218.3

p.G119S

c.355G>A

1 paper

NM_000218.3

p.G119C

c.355G>T

1 paper

NM_000218.3

p.T118T

c.354C>T

2 papers

NM_000218.3

p.G119D

c.356G>A

3 papers

NM_000218.3

p.G119V

c.356G>T

5 papers

NM_000218.3

p.T118S

c.353C>G

2 papers

NM_000218.3

p.T118P

c.352A>C

2 papers

NM_000218.3

p.T118A

c.352A>G

5 papers

NM_000218.3

p.T118S

c.352A>T

1 paper

NM_000218.3

p.W120delFs

c.360delG

2 papers

NM_000218.3

p.W120*

c.359G>A

36 papers

NM_000218.3

p.P117L

c.350C>T