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.A68A

c.204C>T

Surrounding Variants

1 paper

NM_000218.3

p.A68A

c.204C>A

1 paper

NM_000218.3

p.A68A

c.204C>G

2 papers

NM_000218.3

p.A68D

c.203C>A

2 papers

NM_000218.3

p.A68G

c.203C>G

2 papers

NM_000218.3

p.A68V

c.203C>T

1 paper

NM_000218.3

p.A69P

c.205G>C

1 paper

NM_000218.3

p.A69E

c.206C>A

1 paper

NM_000218.3

p.A69G

c.206C>G

1 paper

NM_000218.3

p.A68T

c.202G>A

1 paper

NM_000218.3

p.A68P

c.202G>C

1 paper

NM_000218.3

p.A68S

c.202G>T

1 paper

NM_000218.3

p.A69A

c.207G>C