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.I201del1

c.601_602delATC

Surrounding Variants

1 paper

NM_000218.3

p.S199F

c.596C>T

5 papers

NM_000218.3

p.S199A

c.595T>G

1 paper

NM_000218.3

p.I200V

c.598A>G

3 papers

NM_000218.3

p.I200N

c.599T>A

1 paper

NM_000218.3

p.I198T

c.593T>C

11 papers

NM_000218.3

p.I198V

c.592A>G

1 paper

NM_000218.3

p.I201V

c.601A>G

1 paper

NM_000218.3

p.P197H

c.590C>A

16 papers

NM_000218.3

p.P197L

c.590C>T

10 papers

NM_000218.3

p.P197S

c.589C>T

25 papers

NM_000218.3

p.D202N

c.604G>A

14 papers

NM_000218.3

p.D202H

c.604G>C