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.P8L

c.23C>T

Surrounding Variants

1 paper

NM_000218.3

p.P8H

c.23C>A

1 paper

NM_000218.3

p.P7Q

c.20C>A

1 paper

NM_000218.3

p.P7R

c.20C>G

1 paper

NM_000218.3

p.P7L

c.20C>T

1 paper

NM_000218.3

p.R9T

c.26G>C

1 paper

NM_000218.3

p.P7insFs

c.19_20ins5

9 papers

NM_000218.3

p.P7S

c.19C>T

1 paper

NM_000218.3

p.P7fs

c.19_20fs

1 paper

NM_000218.3

p.R9R

c.27G>A

1 paper

NM_000218.3

p.R9S

c.27G>C

1 paper

NM_000218.3

p.R9S

c.27G>T

3 papers

NM_000218.3

p.S6S

c.18C>T