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

6 papers

NM_000218.3

p.G635R

c.1903G>C

Surrounding Variants

6 papers

NM_000218.3

p.G635R

c.1903G>A

1 paper

NM_000218.3

p.G635E

c.1904G>A

1 paper

NM_000218.3

p.G634V

c.1901G>T

2 papers

NM_000218.3

p.A636T

c.1906G>A

1 paper

NM_000218.3

p.A636P

c.1906G>C

2 papers

NM_000218.3

p.A636fs

c.1906_1907fs

1 paper

NM_000218.3

p.A636S

c.1906G>T

1 paper

NM_000218.3

p.H637delFs

c.1909delC

1 paper

NM_000218.3

p.A636D

c.1907C>A

1 paper

NM_000218.3

p.A636G

c.1907C>G

1 paper

NM_000218.3

p.A636V

c.1907C>T

3 papers

NM_000218.3

p.E633G

c.1898A>G