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

16 papers

NM_000218.3

p.P197L

c.590C>T

Surrounding Variants

1 paper

NM_000218.3

p.P197H

c.590C>A

10 papers

NM_000218.3

p.P197S

c.589C>T

11 papers

NM_000218.3

p.I198V

c.592A>G

9 papers

NM_000218.3

p.K196T

c.587A>C

1 paper

NM_000218.3

p.I198T

c.593T>C

3 papers

NM_000218.3

p.K196Q

c.586A>C

2 papers

NM_000218.3

p.K196fs

c.586_587fs

5 papers

NM_000218.3

p.S199A

c.595T>G

1 paper

NM_000218.3

p.S199F

c.596C>T

1 paper

NM_000218.3

p.I201del1

c.601_602delATC

12 papers

NM_000218.3

p.R195Q

c.584G>A

11 papers

NM_000218.3

p.R195P

c.584G>C