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

6 papers

NM_000218.3

p.Y461*

c.1383T>G

Surrounding Variants

6 papers

NM_000218.3

p.Y461*

c.1383T>A

1 paper

NM_000218.3

p.Y461_D462insFs

c.1383_1384insA

1 paper

NM_000218.3

p.Y461F

c.1382A>T

1 paper

NM_000218.3

p.D462N

c.1384G>A

1 paper

NM_000218.3

p.D462A

c.1385A>C

1 paper

NM_000218.3

p.Y461delFs

c.1382delA

1 paper

NM_000218.3

p.S463R

c.1387A>C

1 paper

NM_000218.3

p.S463G

c.1387A>G

5 papers

NM_000218.3

p.G460D

c.1379G>A

1 paper

NM_000218.3

p.G460A

c.1379G>C

13 papers

NM_000218.3

p.G460S

c.1378G>A

5 papers

NM_000218.3

p.S463T

c.1388G>C