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.P83S

c.247C>T

Surrounding Variants

1 paper

NM_000218.3

p.R82R

c.246G>A

6 papers

NM_000218.3

p.R82R

c.246G>T

1 paper

NM_000218.3

p.P83_D88del6

c.247_263del18

4 papers

NM_000218.3

p.R82Q

c.245G>A

1 paper

NM_000218.3

p.P83P

c.249G>A

1 paper

NM_000218.3

p.P83P

c.249G>C

1 paper

NM_000218.3

p.P83P

c.249G>T

1 paper

NM_000218.3

p.R82W

c.244C>T

1 paper

NM_000218.3

p.P84S

c.250C>T

2 papers

NM_000218.3

p.P84Q

c.251C>A

2 papers

NM_000218.3

p.P84R

c.251C>G

1 paper

NM_000218.3

p.P84L

c.251C>T