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

5 papers

NM_000218.3

p.V280A

c.839T>C

Surrounding Variants

9 papers

NM_000218.3

p.V280E

c.839T>A

1 paper

NM_000218.3

p.V280M

c.838G>A

2 papers

NM_000218.3

p.F279L

c.837T>A

2 papers

NM_000218.3

p.F279L

c.837T>G

17 papers

NM_000218.3

p.Y281C

c.842A>G

1 paper

NM_000218.3

p.Y281F

c.842A>T

6 papers

NM_000218.3

p.F279C

c.836T>G

2 papers

NM_000218.3

p.Y281*

c.843C>A

2 papers

NM_000218.3

p.Y281*

c.843C>G

20 papers

NM_000218.3

p.F279I

c.835T>A

2 papers

NM_000218.3

p.F279L

c.835T>C

2 papers

NM_000218.3

p.Y278*

c.834C>A