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.A352D

c.1055C>A

Surrounding Variants

1 paper

NM_000218.3

p.A352G

c.1055C>G

3 papers

NM_181798.2

p.A225V

c.674C>T

NM_000218.3

p.A352V

c.1055C>T

1 paper

NM_000218.3

p.A352T

c.1054G>A

2 papers

NM_000218.3

p.A352P

c.1054G>C

1 paper

NM_000218.3

p.A352S

c.1054G>T

1 paper

NM_000218.3

p.L353L

c.1057C>T

10 papers

NM_000218.3

p.F351L

c.1053T>A

10 papers

NM_000218.3

p.F351L

c.1053T>G

15 papers

NM_000218.3

p.L353P

c.1058T>C

8 papers

NM_000218.3

p.F351S

c.1052T>C

2 papers

NM_000218.3

p.L353L

c.1059G>A

9 papers

NM_000218.3

p.F351L

c.1051T>C