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

3 papers

NM_000218.3

p.G272S

c.814G>A

Surrounding Variants

4 papers

NM_000218.3

p.G272C

c.814G>T

13 papers

NM_000218.3

p.G272D

c.815G>A

5 papers

NM_000218.3

p.G272A

c.815G>C

11 papers

NM_000218.3

p.G272V

c.815G>T

5 papers

NM_000218.3

p.I274_S277delFs

c.820_830del11

3 papers

NM_181798.2

p.G145G

c.435C>T

1 paper

NM_000218.3

p.L271Q

c.812T>A

2 papers

NM_000218.3

p.L273I

c.817C>A

5 papers

NM_000218.3

p.L273V

c.817C>G

62 papers

NM_000218.3

p.L273F

c.817C>T

2 papers

NM_000218.3

p.L271L

c.811C>T

2 papers

NM_000218.3

p.L273P

c.818T>C