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.R507Q

c.1520G>A

Surrounding Variants

1 paper

NM_000218.3

p.R507R

c.1519C>A

2 papers

NM_000218.3

p.R507W

c.1519C>T

4 papers

NM_000218.3

p.E508*

c.1522G>T

1 paper

NM_000218.3

p.E508G

c.1523A>G

1 paper

NM_000218.3

p.L506V

c.1516C>G

1 paper

NM_000218.3

p.Q505Q

c.1515G>A

1 paper

NM_000218.3

p.H509delFs

c.1527delC

2 papers

NM_000218.3

p.H509Q

c.1527C>A

2 papers

NM_000218.3

p.H509Q

c.1527C>G

1 paper

NM_000218.3

p.H510P

c.1529A>C

4 papers

NM_000218.3

p.R511W

c.1531C>T

3 papers

NM_000218.3

p.A512delFs

c.1534delG