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

2 papers

NM_000218.3

p.Y171F

c.512A>T

Surrounding Variants

2 papers

NM_000218.3

p.Y171S

c.512A>C

1 paper

NM_000218.3

p.Y171C

c.512A>G

26 papers

NM_000218.3

p.Y171*

c.513C>A

28 papers

NM_000218.3

p.Y171*

c.513C>G

4 papers

NM_000218.3

p.Y171H

c.511T>C

1 paper

NM_000218.3

p.Y171insFs

c.511_512ins4

20 papers

NM_000218.3

p.V172M

c.514G>A

3 papers

NM_000218.3

p.V172L

c.514G>C

1 paper

NM_000218.3

p.E170D

c.510G>C

5 papers

NM_000218.3

p.L175_A178insFs

c.524_534dup11

2 papers

NM_000218.3

p.V172L

c.514G>T

1 paper

NM_000218.3

p.E170D

c.510G>T