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_181798.2

p.Y151delFs

c.453delC

Surrounding Variants

1 paper

NM_000218.3

p.Y278C

c.833A>G

1 paper

NM_000218.3

p.Y278F

c.833A>T

2 papers

NM_000218.3

p.Y278*

c.834C>A

2 papers

NM_000218.3

p.Y278*

c.834C>G

9 papers

NM_000218.3

p.Y278H

c.832T>C

20 papers

NM_000218.3

p.F279I

c.835T>A

2 papers

NM_000218.3

p.F279L

c.835T>C

10 papers

NM_000218.3

p.S277W

c.830C>G

40 papers

NM_000218.3

p.S277L

c.830C>T

6 papers

NM_000218.3

p.F279C

c.836T>G

2 papers

NM_000218.3

p.F279L

c.837T>A

4 papers

NM_000218.3

p.S277P

c.829T>C