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

50 papers

NM_000218.3

p.S225L

c.674C>T

Surrounding Variants

6 papers

NM_000218.3

p.S225W

c.674C>G

1 paper

NM_000218.3

p.S225S

c.675G>A

1 paper

NM_000218.3

p.S225T

c.673T>A

3 papers

NM_000218.3

p.S225A

c.673T>G

2 papers

NM_000218.3

p.A226T

c.676G>A

1 paper

NM_000218.3

p.T224T

c.672G>A

1 paper

NM_000218.3

p.A226P

c.676G>C

2 papers

NM_000218.3

p.A226S

c.676G>T

2 papers

NM_000218.3

p.A226D

c.677C>A

1 paper

NM_000218.3

p.T224R

c.671C>G

1 paper

NM_000218.3

p.A226G

c.677C>G

11 papers

NM_000218.3

p.A226V

c.677C>T