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.L151fs

c.451_452fs

Surrounding Variants

5 papers

NM_000218.3

p.L151delFs

c.451_452delCT

1 paper

NM_000218.3

p.L151insFs

c.453dupG

1 paper

NM_000218.3

p.A150D

c.449C>A

7 papers

NM_000218.3

p.A150G

c.449C>G

6 papers

NM_000218.3

p.A150V

c.449C>T

1 paper

NM_000218.3

p.L151_A152insFs

c.453_454insCC

10 papers

NM_000218.3

p.A150T

c.448G>A

1 paper

NM_000218.3

p.A152T

c.454G>A

1 paper

NM_000218.3

p.A150P

c.448G>C

1 paper

NM_000218.3

p.A152P

c.454G>C

1 paper

NM_000218.3

p.A152insFs

c.454_455insC

6 papers

NM_000218.3

p.A150fs

c.448_449fs